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Protein

28S ribosomal protein S7, mitochondrial

Gene

MRPS7

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

Functioni

GO - Molecular functioni

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 S7, mitochondrial
Short name:
MRP-S7
Short name:
S7mt
Alternative name(s):
Mitochondrial small ribosomal subunit protein uS7m1 Publication
bMRP-27a
Short name:
bMRP27a
Gene namesi
Name:MRPS7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 17

Organism-specific databases

EuPathDBiHostDB:ENSG00000125445.10
HGNCiHGNC:14499 MRPS7
MIMi611974 gene
neXtProtiNX_Q9Y2R9

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 34 (COXPD34)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder caused by mitochondrial dysfunction and combined respiratory chain deficiencies of complexes I, III and IV. Clinical manifestations are variable and include congenital sensorineural deafness, lactic acidemia, and progressive hepatic and renal failure.
See also OMIM:617872
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_080411184M → V in COXPD34; results in decreased mitochondrial protein synthesis and reduced levels of respiratory complexes; MRPS7 mRNA and protein levels are reduced. 1 PublicationCorresponds to variant dbSNP:rs115047866EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Primary mitochondrial disease

Organism-specific databases

DisGeNETi51081
MalaCardsiMRPS7
MIMi617872 phenotype
OpenTargetsiENSG00000125445
PharmGKBiPA31026

Polymorphism and mutation databases

BioMutaiMRPS7
DMDMi296452884

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Transit peptidei1 – 37MitochondrionSequence analysisAdd BLAST37
ChainiPRO_000027305638 – 24228S ribosomal protein S7, mitochondrialAdd BLAST205

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei208N6-acetyllysineCombined sources1
Modified residuei228N6-acetyllysineCombined sources1

Keywords - PTMi

Acetylation

Proteomic databases

EPDiQ9Y2R9
MaxQBiQ9Y2R9
PaxDbiQ9Y2R9
PeptideAtlasiQ9Y2R9
PRIDEiQ9Y2R9
ProteomicsDBi85881
TopDownProteomicsiQ9Y2R9

PTM databases

iPTMnetiQ9Y2R9
PhosphoSitePlusiQ9Y2R9
SwissPalmiQ9Y2R9

Expressioni

Gene expression databases

BgeeiENSG00000125445
CleanExiHS_MRPS7
ExpressionAtlasiQ9Y2R9 baseline and differential
GenevisibleiQ9Y2R9 HS

Organism-specific databases

HPAiHPA022522
HPA023007

Interactioni

Subunit structurei

Component of the mitochondrial small ribosomal subunit (mt-SSU), essential for mitochondrial protein synthesis (PubMed:25556185, PubMed:25838379). 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 (PubMed:25838379).2 Publications

Protein-protein interaction databases

BioGridi119271, 106 interactors
CORUMiQ9Y2R9
IntActiQ9Y2R9, 23 interactors
MINTiQ9Y2R9
STRINGi9606.ENSP00000245539

Structurei

3D structure databases

ProteinModelPortaliQ9Y2R9
SMRiQ9Y2R9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiKOG3291 Eukaryota
COG0049 LUCA
GeneTreeiENSGT00390000014620
HOGENOMiHOG000039065
HOVERGENiHBG080152
InParanoidiQ9Y2R9
KOiK02992
OMAiITECREK
PhylomeDBiQ9Y2R9
TreeFamiTF105978

Family and domain databases

Gene3Di1.10.455.10, 1 hit
InterProiView protein in InterPro
IPR000235 Ribosomal_S5/S7
IPR023798 Ribosomal_S7_dom
IPR036823 Ribosomal_S7_dom_sf
PANTHERiPTHR11205 PTHR11205, 1 hit
PfamiView protein in Pfam
PF00177 Ribosomal_S7, 1 hit
PIRSFiPIRSF002122 RPS7p_RPS7a_RPS5e_RPS7o, 1 hit
SUPFAMiSSF47973 SSF47973, 1 hit

Sequencei

Sequence statusi: Complete.

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

Q9Y2R9-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MAAPAVKVAR GWSGLALGVR RAVLQLPGLT QVRWSRYSPE FKDPLIDKEY
60 70 80 90 100
YRKPVEELTE EEKYVRELKK TQLIKAAPAG KTSSVFEDPV ISKFTNMMMI
110 120 130 140 150
GGNKVLARSL MIQTLEAVKR KQFEKYHAAS AEEQATIERN PYTIFHQALK
160 170 180 190 200
NCEPMIGLVP ILKGGRFYQV PVPLPDRRRR FLAMKWMITE CRDKKHQRTL
210 220 230 240
MPEKLSHKLL EAFHNQGPVI KRKHDLHKMA EANRALAHYR WW
Length:242
Mass (Da):28,134
Last modified:May 18, 2010 - v2
Checksum:i945BC3E948B41CCA
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti223K → S in BAD96715 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0300762A → V4 PublicationsCorresponds to variant dbSNP:rs8075276EnsemblClinVar.1
Natural variantiVAR_080411184M → V in COXPD34; results in decreased mitochondrial protein synthesis and reduced levels of respiratory complexes; MRPS7 mRNA and protein levels are reduced. 1 PublicationCorresponds to variant dbSNP:rs115047866EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF077042 mRNA Translation: AAD27775.1
AK222995 mRNA Translation: BAD96715.1
AK313854 mRNA Translation: BAG36582.1
AC022211 Genomic DNA No translation available.
BC000241 mRNA Translation: AAH00241.1
CCDSiCCDS11718.1
PIRiJC7165
RefSeqiNP_057055.2, NM_015971.3
UniGeneiHs.71787

Genome annotation databases

EnsembliENST00000245539; ENSP00000245539; ENSG00000125445
GeneIDi51081
KEGGihsa:51081
UCSCiuc002jnm.5 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiRT07_HUMAN
AccessioniPrimary (citable) accession number: Q9Y2R9
Secondary accession number(s): B2R9N5, Q53GD6
Entry historyiIntegrated into UniProtKB/Swiss-Prot: January 23, 2007
Last sequence update: May 18, 2010
Last modified: July 18, 2018
This is version 140 of the entry and version 2 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 17
    Human chromosome 17: 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. Ribosomal proteins
    Ribosomal proteins families and list of entries
  7. SIMILARITY comments
    Index of protein domains and families

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