Q9Y399 · RT02_HUMAN
- ProteinSmall ribosomal subunit protein uS2m
- GeneMRPS2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids296 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Function
function
Required for mitoribosome formation and stability, and mitochondrial translation.
GO annotations
all annotations | all molecular function | virus receptor activity | dna binding | rna binding | cytoskeletal motor activity | catalytic activity | gtpase activity | structural molecule activity | transporter activity | cytoskeletal protein binding | lipid binding | cyclase activity | antioxidant activity | oxidoreductase activity | transferase activity | hydrolase activity | lyase activity | isomerase activity | ligase activity | protein tag activity | cargo receptor activity | histone binding | protein folding chaperone | translation regulator activity | nutrient reservoir activity | receptor ligand activity | molecular transducer activity | molecular adaptor activity | toxin activity | cell adhesion mediator activity | molecular function regulator activity | virus coreceptor activity | catalytic activity, acting on a protein | catalytic activity, acting on dna | catalytic activity, acting on rna | molecular carrier activity | transcription regulator activity | general transcription initiation factor activity | molecular sensor activity | molecular sequestering activity | atp-dependent activity | other molecular function | all biological process | mitotic cell cycle | cytokinesis | cytoplasmic translation | immune system process | muscle system process | circulatory system process | renal system process | respiratory system process | carbohydrate metabolic process | generation of precursor metabolites and energy | dna replication | dna repair | dna recombination | chromatin organization | dna-templated transcription | regulation of dna-templated transcription | trna metabolic process | protein folding | protein glycosylation | amino acid metabolic process | modified amino acid metabolic process | lipid metabolic process | vitamin metabolic process | sulfur compound metabolic process | intracellular protein transport | nucleocytoplasmic transport | autophagy | inflammatory response | mitochondrion organization | cytoskeleton organization | microtubule-based movement | peroxisome organization | lysosome organization | chromosome segregation | cell adhesion | establishment or maintenance of cell polarity | programmed cell death | photosynthesis | mrna metabolic process | snrna metabolic process | vesicle-mediated transport | reproductive process | digestive system process | signaling | cell differentiation | protein catabolic process | extracellular matrix organization | regulatory ncrna-mediated gene silencing | telomere organization | cell junction organization | wound healing | ribosome biogenesis | cilium organization | anatomical structure development | cell motility | nervous system process | endocrine process | protein maturation | transmembrane transport | nucleobase-containing small molecule metabolic process | hepaticobiliary system process | membrane organization | protein-containing complex assembly | cell wall organization or biogenesis | nitrogen cycle metabolic process | protein localization to plasma membrane | defense response to other organism | detoxification | meiotic nuclear division | mitotic nuclear division | mitochondrial gene expression | carbohydrate derivative metabolic process | other biological process | all cellular component | nuclear chromosome | extracellular region | extracellular space | cell wall | nucleus | nuclear envelope | nucleoplasm | chromosome | nucleolus | mitochondrion | lysosome | endosome | vacuole | peroxisome | endoplasmic reticulum | golgi apparatus | lipid droplet | microtubule organizing center | cytosol | ribosome | cytoskeleton | plasma membrane | cilium | plastid | thylakoid | external encapsulating structure | extracellular matrix | cytoplasmic vesicle | organelle | other cellular component | |||
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Aspect | Term | |
---|---|---|
Cellular Component | mitochondrial inner membrane | |
Cellular Component | mitochondrial matrix | |
Cellular Component | mitochondrial small ribosomal subunit | |
Cellular Component | mitochondrion | |
Molecular Function | structural constituent of ribosome | |
Biological Process | mitochondrial ribosome assembly | |
Biological Process | mitochondrial translation |
Keywords
- Molecular function
Enzyme and pathway databases
Names & Taxonomy
Protein names
- Recommended nameSmall ribosomal subunit protein uS2m
- Alternative names
Gene names
Organism names
- Organism
- Taxonomic lineageEukaryota > Metazoa > Chordata > Craniata > Vertebrata > Euteleostomi > Mammalia > Eutheria > Euarchontoglires > Primates > Haplorrhini > Catarrhini > Hominidae > Homo
Accessions
- Primary accessionQ9Y399
- Secondary accessions
Proteomes
Organism-specific databases
Subcellular Location
Disease & Variants
Involvement in disease
Combined oxidative phosphorylation deficiency 36 (COXPD36)
- Note
- 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 alsoMIM:617950
Natural variants in COXPD36
Variant ID | Position(s) | Change | Description | |
---|---|---|---|---|
VAR_080787 | 110 | R>C | in COXPD36; results in impaired assembly of the small mitoribosomal subunit and impaired mitochondrial translation in patient cells; dbSNP:rs761334309 | |
VAR_080788 | 114 | D>N | in COXPD36; results in impaired assembly of the small mitoribosomal subunit and impaired mitochondrial translation in patient cells; dbSNP:rs201229537 | |
VAR_080789 | 138 | R>H | in COXPD36; results in impaired assembly of the small mitoribosomal subunit and impaired mitochondrial translation in patient cells; dbSNP:rs758539748 |
Features
Showing features for natural variant.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Natural variant | VAR_080787 | 110 | in COXPD36; results in impaired assembly of the small mitoribosomal subunit and impaired mitochondrial translation in patient cells; dbSNP:rs761334309 | |||
Sequence: R → C | ||||||
Natural variant | VAR_034479 | 112 | in dbSNP:rs35140806 | |||
Sequence: D → G | ||||||
Natural variant | VAR_080788 | 114 | in COXPD36; results in impaired assembly of the small mitoribosomal subunit and impaired mitochondrial translation in patient cells; dbSNP:rs201229537 | |||
Sequence: D → N | ||||||
Natural variant | VAR_080789 | 138 | in COXPD36; results in impaired assembly of the small mitoribosomal subunit and impaired mitochondrial translation in patient cells; dbSNP:rs758539748 | |||
Sequence: R → H | ||||||
Natural variant | VAR_034480 | 158 | in dbSNP:rs35293407 | |||
Sequence: M → V | ||||||
Natural variant | VAR_020128 | 294 | in dbSNP:rs3748199 | |||
Sequence: H → R |
Variants
We now provide the "Disease & Variants" viewer in its own tab.
The viewer provides 443 variants from UniProt as well as other sources including ClinVar and dbSNP.
Keywords
- Disease
Organism-specific databases
Miscellaneous
Genetic variation databases
PTM/Processing
Features
Showing features for chain.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Chain | PRO_0000134343 | 1-296 | Small ribosomal subunit protein uS2m | |||
Sequence: MATSSAALPRILGAGARAPSRWLGFLGKATPRPARPSRRTLGSATALMIRESEDSTDFNDKILNEPLKHSDFFNVKELFSVRSLFDARVHLGHKAGCRHRFMEPYIFGSRLDHDIIDLEQTATHLQLALNFTAHMAYRKGIILFISRNRQFSYLIENMARDCGEYAHTRYFRGGMLTNARLLFGPTVRLPDLIIFLHTLNNIFEPHVAVRDAAKMNIPTVGIVDTNCNPCLITYPVPGNDDSPLAVHLYCRLFQTAITRAKEKRQQVEALYRLQGQKEPGDQGPAHPPGADMSHSL |
Proteomic databases
PTM databases
Expression
Interaction
Subunit
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.
Protein-protein interaction databases
Miscellaneous
Structure
Family & Domains
Features
Showing features for region.
Type | ID | Position(s) | Description | |||
---|---|---|---|---|---|---|
Region | 274-296 | Disordered | ||||
Sequence: QGQKEPGDQGPAHPPGADMSHSL |
Sequence similarities
Belongs to the universal ribosomal protein uS2 family.
Phylogenomic databases
Family and domain databases
Sequence
- Sequence statusComplete
- Length296
- Mass (Da)33,249
- Last updated1999-11-01 v1
- ChecksumE05A248B09AA1A8B
Computationally mapped potential isoform sequences
There are 4 potential isoforms mapped to this entry
Entry | Entry name | Gene name | Length | ||
---|---|---|---|---|---|
A0A8Q3SHR3 | A0A8Q3SHR3_HUMAN | MRPS2 | 112 | ||
A0A8Q3SHW9 | A0A8Q3SHW9_HUMAN | MRPS2 | 103 | ||
A0A8Q3SHX8 | A0A8Q3SHX8_HUMAN | MRPS2 | 102 | ||
A0A8Q3SHQ1 | A0A8Q3SHQ1_HUMAN | MRPS2 | 109 |
Sequence caution
Keywords
- Technical term
Sequence databases
Nucleotide Sequence | Protein Sequence | Molecule Type | Status | |
---|---|---|---|---|
AB055388 EMBL· GenBank· DDBJ | BAB62529.1 EMBL· GenBank· DDBJ | mRNA | ||
AF151849 EMBL· GenBank· DDBJ | AAD34086.1 EMBL· GenBank· DDBJ | mRNA | ||
AL161452 EMBL· GenBank· DDBJ | - | Genomic DNA | No translation available. | |
BC004905 EMBL· GenBank· DDBJ | AAH04905.2 EMBL· GenBank· DDBJ | mRNA | Sequence problems. | |
BC008017 EMBL· GenBank· DDBJ | AAH08017.1 EMBL· GenBank· DDBJ | mRNA | ||
BC013108 EMBL· GenBank· DDBJ | AAH13108.1 EMBL· GenBank· DDBJ | mRNA |