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Protein

28S ribosomal protein S2, mitochondrial

Gene

MRPS2

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

Functioni

Required for mitoribosome formation and stability, and mitochondrial translation.1 Publication

GO - Molecular functioni

  • structural constituent of ribosome Source: UniProtKB

GO - Biological processi

Keywordsi

Molecular functionRibonucleoprotein, Ribosomal protein

Enzyme and pathway databases

ReactomeiR-HSA-5368286 Mitochondrial translation initiation
R-HSA-5389840 Mitochondrial translation elongation
R-HSA-5419276 Mitochondrial translation termination

Names & Taxonomyi

Protein namesi
Recommended name:
28S ribosomal protein S2, mitochondrial
Short name:
MRP-S2
Short name:
S2mt
Alternative name(s):
Mitochondrial small ribosomal subunit protein uS2m1 Publication
Gene namesi
Name:MRPS2
ORF Names:CGI-91
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000122140.10
HGNCiHGNC:14495 MRPS2
MIMi611971 gene
neXtProtiNX_Q9Y399

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

Involvement in diseasei

Combined oxidative phosphorylation deficiency 36 (COXPD36)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive, multisystem disease resulting from deficiencies of mitochondrial respiratory enzyme complexes and mitochondrial dysfunction. Clinical manifestations include sensorineural hearing impairment, mild developmental delay, hypoglycemia, and intellectual disability.
See also OMIM:617950
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080787110R → C in COXPD36; results in impaired assembly of the small mitoribosomal subunit and impaired mitochondrial translation in patient cells. 1 Publication1
Natural variantiVAR_080788114D → N in COXPD36; results in impaired assembly of the small mitoribosomal subunit and impaired mitochondrial translation in patient cells. 1 Publication1
Natural variantiVAR_080789138R → H in COXPD36; results in impaired assembly of the small mitoribosomal subunit and impaired mitochondrial translation in patient cells. 1 Publication1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

MIMi617950 phenotype
OpenTargetsiENSG00000122140
PharmGKBiPA31007

Polymorphism and mutation databases

BioMutaiMRPS2
DMDMi24212389

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001343431 – 29628S ribosomal protein S2, mitochondrialAdd BLAST296

Proteomic databases

EPDiQ9Y399
MaxQBiQ9Y399
PaxDbiQ9Y399
PeptideAtlasiQ9Y399
PRIDEiQ9Y399
ProteomicsDBi85989

PTM databases

iPTMnetiQ9Y399
PhosphoSitePlusiQ9Y399

Expressioni

Gene expression databases

BgeeiENSG00000122140 Expressed in 208 organ(s), highest expression level in right adrenal gland
CleanExiHS_MRPS2
ExpressionAtlasiQ9Y399 baseline and differential
GenevisibleiQ9Y399 HS

Organism-specific databases

HPAiHPA029487
HPA057261

Interactioni

Subunit structurei

Component of the mitochondrial small ribosomal subunit (mt-SSU). Mature mammalian 55S mitochondrial ribosomes consist of a small (28S) and a large (39S) subunit. The 28S small subunit contains a 12S ribosomal RNA (12S mt-rRNA) and 30 different proteins. The 39S large subunit contains a 16S rRNA (16S mt-rRNA), a copy of mitochondrial valine transfer RNA (mt-tRNA(Val)), which plays an integral structural role, and 52 different proteins.1 Publication

Protein-protein interaction databases

BioGridi119304, 62 interactors
CORUMiQ9Y399
IntActiQ9Y399, 22 interactors
MINTiQ9Y399
STRINGi9606.ENSP00000241600

Structurei

3D structure databases

ProteinModelPortaliQ9Y399
SMRiQ9Y399
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Phylogenomic databases

eggNOGiKOG0832 Eukaryota
COG0052 LUCA
GeneTreeiENSGT00390000017382
HOGENOMiHOG000071892
HOVERGENiHBG028633
InParanoidiQ9Y399
KOiK02967
OrthoDBiEOG091G0NYD
PhylomeDBiQ9Y399
TreeFamiTF313480

Family and domain databases

CDDicd01425 RPS2, 1 hit
HAMAPiMF_00291_B Ribosomal_S2_B, 1 hit
InterProiView protein in InterPro
IPR001865 Ribosomal_S2
IPR005706 Ribosomal_S2_bac/mit/plastid
IPR018130 Ribosomal_S2_CS
IPR023591 Ribosomal_S2_flav_dom_sf
PANTHERiPTHR12534 PTHR12534, 1 hit
PfamiView protein in Pfam
PF00318 Ribosomal_S2, 2 hits
PRINTSiPR00395 RIBOSOMALS2
SUPFAMiSSF52313 SSF52313, 1 hit
PROSITEiView protein in PROSITE
PS00962 RIBOSOMAL_S2_1, 1 hit

Sequence (1+)i

Sequence statusi: Complete.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q9Y399-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MATSSAALPR ILGAGARAPS RWLGFLGKAT PRPARPSRRT LGSATALMIR
60 70 80 90 100
ESEDSTDFND KILNEPLKHS DFFNVKELFS VRSLFDARVH LGHKAGCRHR
110 120 130 140 150
FMEPYIFGSR LDHDIIDLEQ TATHLQLALN FTAHMAYRKG IILFISRNRQ
160 170 180 190 200
FSYLIENMAR DCGEYAHTRY FRGGMLTNAR LLFGPTVRLP DLIIFLHTLN
210 220 230 240 250
NIFEPHVAVR DAAKMNIPTV GIVDTNCNPC LITYPVPGND DSPLAVHLYC
260 270 280 290
RLFQTAITRA KEKRQQVEAL YRLQGQKEPG DQGPAHPPGA DMSHSL
Length:296
Mass (Da):33,249
Last modified:November 1, 1999 - v1
Checksum:iE05A248B09AA1A8B
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
Q5T8A0Q5T8A0_HUMAN
28S ribosomal protein S2, mitochond...
MRPS2
270Annotation score:

Sequence cautioni

The sequence AAH04905 differs from that shown. Reason: Erroneous translation. Wrong choice of frame.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080787110R → C in COXPD36; results in impaired assembly of the small mitoribosomal subunit and impaired mitochondrial translation in patient cells. 1 Publication1
Natural variantiVAR_034479112D → G. Corresponds to variant dbSNP:rs35140806Ensembl.1
Natural variantiVAR_080788114D → N in COXPD36; results in impaired assembly of the small mitoribosomal subunit and impaired mitochondrial translation in patient cells. 1 Publication1
Natural variantiVAR_080789138R → H in COXPD36; results in impaired assembly of the small mitoribosomal subunit and impaired mitochondrial translation in patient cells. 1 Publication1
Natural variantiVAR_034480158M → V. Corresponds to variant dbSNP:rs35293407Ensembl.1
Natural variantiVAR_020128294H → R. Corresponds to variant dbSNP:rs3748199Ensembl.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB055388 mRNA Translation: BAB62529.1
AF151849 mRNA Translation: AAD34086.1
AL161452 Genomic DNA No translation available.
BC004905 mRNA Translation: AAH04905.2 Sequence problems.
BC008017 mRNA Translation: AAH08017.1
BC013108 mRNA Translation: AAH13108.1
CCDSiCCDS6990.1
RefSeqiNP_057118.1, NM_016034.4
UniGeneiHs.382044

Genome annotation databases

EnsembliENST00000241600; ENSP00000241600; ENSG00000122140
ENST00000371785; ENSP00000360850; ENSG00000122140
GeneIDi51116
KEGGihsa:51116
UCSCiuc004cfv.6 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB055388 mRNA Translation: BAB62529.1
AF151849 mRNA Translation: AAD34086.1
AL161452 Genomic DNA No translation available.
BC004905 mRNA Translation: AAH04905.2 Sequence problems.
BC008017 mRNA Translation: AAH08017.1
BC013108 mRNA Translation: AAH13108.1
CCDSiCCDS6990.1
RefSeqiNP_057118.1, NM_016034.4
UniGeneiHs.382044

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
3J9Melectron microscopy3.50AB1-296[»]
ProteinModelPortaliQ9Y399
SMRiQ9Y399
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi119304, 62 interactors
CORUMiQ9Y399
IntActiQ9Y399, 22 interactors
MINTiQ9Y399
STRINGi9606.ENSP00000241600

PTM databases

iPTMnetiQ9Y399
PhosphoSitePlusiQ9Y399

Polymorphism and mutation databases

BioMutaiMRPS2
DMDMi24212389

Proteomic databases

EPDiQ9Y399
MaxQBiQ9Y399
PaxDbiQ9Y399
PeptideAtlasiQ9Y399
PRIDEiQ9Y399
ProteomicsDBi85989

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000241600; ENSP00000241600; ENSG00000122140
ENST00000371785; ENSP00000360850; ENSG00000122140
GeneIDi51116
KEGGihsa:51116
UCSCiuc004cfv.6 human

Organism-specific databases

CTDi51116
EuPathDBiHostDB:ENSG00000122140.10
GeneCardsiMRPS2
H-InvDBiHIX0035038
HGNCiHGNC:14495 MRPS2
HPAiHPA029487
HPA057261
MIMi611971 gene
617950 phenotype
neXtProtiNX_Q9Y399
OpenTargetsiENSG00000122140
PharmGKBiPA31007
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG0832 Eukaryota
COG0052 LUCA
GeneTreeiENSGT00390000017382
HOGENOMiHOG000071892
HOVERGENiHBG028633
InParanoidiQ9Y399
KOiK02967
OrthoDBiEOG091G0NYD
PhylomeDBiQ9Y399
TreeFamiTF313480

Enzyme and pathway databases

ReactomeiR-HSA-5368286 Mitochondrial translation initiation
R-HSA-5389840 Mitochondrial translation elongation
R-HSA-5419276 Mitochondrial translation termination

Miscellaneous databases

ChiTaRSiMRPS2 human
GenomeRNAii51116
PROiPR:Q9Y399
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000122140 Expressed in 208 organ(s), highest expression level in right adrenal gland
CleanExiHS_MRPS2
ExpressionAtlasiQ9Y399 baseline and differential
GenevisibleiQ9Y399 HS

Family and domain databases

CDDicd01425 RPS2, 1 hit
HAMAPiMF_00291_B Ribosomal_S2_B, 1 hit
InterProiView protein in InterPro
IPR001865 Ribosomal_S2
IPR005706 Ribosomal_S2_bac/mit/plastid
IPR018130 Ribosomal_S2_CS
IPR023591 Ribosomal_S2_flav_dom_sf
PANTHERiPTHR12534 PTHR12534, 1 hit
PfamiView protein in Pfam
PF00318 Ribosomal_S2, 2 hits
PRINTSiPR00395 RIBOSOMALS2
SUPFAMiSSF52313 SSF52313, 1 hit
PROSITEiView protein in PROSITE
PS00962 RIBOSOMAL_S2_1, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiRT02_HUMAN
AccessioniPrimary (citable) accession number: Q9Y399
Secondary accession number(s): Q5T899, Q9BSQ4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 19, 2002
Last sequence update: November 1, 1999
Last modified: October 10, 2018
This is version 151 of the entry and version 1 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

Documents

  1. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
  2. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  3. SIMILARITY comments
    Index of protein domains and families
  4. Ribosomal proteins
    Ribosomal proteins families and list of entries
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  7. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
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Main funding by: National Institutes of Health

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