MRPS7 encodes mitochondrial ribosomal protein uS7m, the mitochondrial member of the universal ribosomal protein S7 family. It is a structural component of the 28S small subunit of the 55S mitochondrial ribosome, located in the head of the subunit, where it binds 12S mt-rRNA and is required for small-subunit assembly. The mitoribosome translates the 13 mtDNA-encoded oxidative phosphorylation subunits. A homozygous MRPS7 missense variant reduces 12S rRNA levels and causes combined respiratory chain deficiency (complexes I and IV) with congenital sensorineural deafness, lactic acidemia and progressive hepatic and renal failure (combined oxidative phosphorylation deficiency 34).
| GO Term | Evidence | Action | Reason |
|---|---|---|---|
| GO:0003723 RNA binding | HDA PMID:22658674 Insights into RNA biology from an atlas of mammalian mRNA-bi... | KEEP AS NON CORE | Summary: High-throughput mRNA interactome capture (oligo(dT) pulldown after UV crosslinking) detected MRPS7 among RNA-bound proteins. Reason: MRPS7 is an RNA-binding ribosomal protein, so generic RNA binding is correct, but the informative activity is binding of 12S mt-rRNA as a structural component of the small mitoribosomal subunit (captured by rRNA binding and structural constituent of ribosome). The interactome hit most likely reflects crosslinking within mRNA-engaged mitoribosomes. Kept as a non-core, general annotation. Supporting Evidence: PMID:25556185 MRPS7 is a 12S ribosomal RNA-binding subunit of the small mitochondrial ribosomal subunit, and is required for the assembly of the small ribosomal subunit |
| GO:0003723 RNA binding | HDA PMID:22681889 The mRNA-bound proteome and its global occupancy profile on ... | KEEP AS NON CORE | Summary: High-throughput mRNA interactome capture (oligo(dT) pulldown after UV crosslinking) detected MRPS7 among RNA-bound proteins. Reason: MRPS7 is an RNA-binding ribosomal protein, so generic RNA binding is correct, but the informative activity is binding of 12S mt-rRNA as a structural component of the small mitoribosomal subunit (captured by rRNA binding and structural constituent of ribosome). The interactome hit most likely reflects crosslinking within mRNA-engaged mitoribosomes. Kept as a non-core, general annotation. Supporting Evidence: PMID:25556185 MRPS7 is a 12S ribosomal RNA-binding subunit of the small mitochondrial ribosomal subunit, and is required for the assembly of the small ribosomal subunit |
| GO:0003729 mRNA binding | IBA GO_REF:0000033 | KEEP AS NON CORE | Summary: PAINT inference of mRNA binding for the uS7 family (bacterial/chloroplast S7 contacts mRNA in the E site/exit channel of the small subunit). Reason: uS7 lines the mRNA exit path in bacterial ribosomes, so mRNA contact within the translating ribosome is phylogenetically plausible for uS7m. However, the human mitoribosomal small subunit head and mRNA channel are highly remodelled and no direct mRNA-binding data exist for human MRPS7; its demonstrated role is as a 12S rRNA-binding structural protein. Kept as non-core rather than accepted as a core activity. Supporting Evidence: PMID:25838379 The head domain of the small subunit, particularly the messenger (mRNA) channel, is highly remodeled |
| GO:0003735 structural constituent of ribosome | IBA GO_REF:0000033 | ACCEPT | Summary: MRPS7 (uS7m) is a structural protein of the 28S small subunit of the human 55S mitoribosome, resolved in the cryo-EM structure of the intact mitoribosome. Reason: Core molecular function. Structural data place uS7m in the small subunit, and the patient missense variant impairs small-subunit assembly and 12S rRNA levels, rescued by wild-type MRPS7. Supporting Evidence: PMID:25556185 MRPS7 is a 12S ribosomal RNA-binding subunit of the small mitochondrial ribosomal subunit, and is required for the assembly of the small ribosomal subunit PMID:25838379 It reveals 80 extensively interconnected proteins, 36 of which are specific to mitochondria, and three ribosomal RNA molecules |
| GO:0003735 structural constituent of ribosome | ISS GO_REF:0000024 | ACCEPT | Summary: MRPS7 (uS7m) is a structural protein of the 28S small subunit of the human 55S mitoribosome, resolved in the cryo-EM structure of the intact mitoribosome. Reason: Core molecular function. Structural data place uS7m in the small subunit, and the patient missense variant impairs small-subunit assembly and 12S rRNA levels, rescued by wild-type MRPS7. Supporting Evidence: PMID:25556185 MRPS7 is a 12S ribosomal RNA-binding subunit of the small mitochondrial ribosomal subunit, and is required for the assembly of the small ribosomal subunit PMID:25838379 It reveals 80 extensively interconnected proteins, 36 of which are specific to mitochondria, and three ribosomal RNA molecules |
| GO:0005739 mitochondrion | EXP PMID:25838379 Ribosome. The structure of the human mitochondrial ribosome. | ACCEPT | Summary: MRPS7 is a component of the human mitoribosome resolved by cryo-EM. Reason: Correct; mitochondrial matrix ribosome protein. Supporting Evidence: PMID:25838379 The highly divergent ribosomes of human mitochondria (mitoribosomes) synthesize 13 essential proteins of oxidative phosphorylation complexes |
| GO:0005739 mitochondrion | HTP PMID:34800366 Quantitative high-confidence human mitochondrial proteome an... | ACCEPT | Summary: Detected in the high-confidence human mitochondrial proteome (MitoCoP). Reason: Consistent with structural and genetic data. Supporting Evidence: PMID:34800366 mitochondrial high-confidence proteome of >1,100 proteins (MitoCoP). |
| GO:0005739 mitochondrion | IEA GO_REF:0000044 | ACCEPT | Summary: UniProt SubCell mapping to mitochondrion. Reason: Correct. |
| GO:0005743 mitochondrial inner membrane | IEA GO_REF:0000117 | KEEP AS NON CORE | Summary: Inner-membrane localization asserted from Reactome mitochondrial translation events, a mitoribosome review, and ARBA. Reason: The mammalian mitoribosome is peripherally associated with the matrix face of the inner membrane (via large-subunit contacts) to allow co-translational membrane insertion of its hydrophobic products. MRPS7 is a small-subunit head protein in the matrix-exposed particle, not a membrane protein; its primary location is the mitochondrial small ribosomal subunit in the matrix. The inner-membrane annotation reflects the whole-particle association and is kept as non-core. Supporting Evidence: PMID:27023846 mitoribosomes have become functionally specialized for synthesizing mitochondrial membrane proteins |
| GO:0005743 mitochondrial inner membrane | NAS PMID:27023846 Structure and Function of the Mitochondrial Ribosome. | KEEP AS NON CORE | Summary: Inner-membrane localization asserted from Reactome mitochondrial translation events, a mitoribosome review, and ARBA. Reason: The mammalian mitoribosome is peripherally associated with the matrix face of the inner membrane (via large-subunit contacts) to allow co-translational membrane insertion of its hydrophobic products. MRPS7 is a small-subunit head protein in the matrix-exposed particle, not a membrane protein; its primary location is the mitochondrial small ribosomal subunit in the matrix. The inner-membrane annotation reflects the whole-particle association and is kept as non-core. Supporting Evidence: PMID:27023846 mitoribosomes have become functionally specialized for synthesizing mitochondrial membrane proteins |
| GO:0005743 mitochondrial inner membrane | TAS Reactome:R-HSA-5419261 | KEEP AS NON CORE | Summary: Inner-membrane localization asserted from Reactome mitochondrial translation events, a mitoribosome review, and ARBA. Reason: The mammalian mitoribosome is peripherally associated with the matrix face of the inner membrane (via large-subunit contacts) to allow co-translational membrane insertion of its hydrophobic products. MRPS7 is a small-subunit head protein in the matrix-exposed particle, not a membrane protein; its primary location is the mitochondrial small ribosomal subunit in the matrix. The inner-membrane annotation reflects the whole-particle association and is kept as non-core. Supporting Evidence: PMID:27023846 mitoribosomes have become functionally specialized for synthesizing mitochondrial membrane proteins |
| GO:0005743 mitochondrial inner membrane | TAS Reactome:R-HSA-5419264 | KEEP AS NON CORE | Summary: Inner-membrane localization asserted from Reactome mitochondrial translation events, a mitoribosome review, and ARBA. Reason: The mammalian mitoribosome is peripherally associated with the matrix face of the inner membrane (via large-subunit contacts) to allow co-translational membrane insertion of its hydrophobic products. MRPS7 is a small-subunit head protein in the matrix-exposed particle, not a membrane protein; its primary location is the mitochondrial small ribosomal subunit in the matrix. The inner-membrane annotation reflects the whole-particle association and is kept as non-core. Supporting Evidence: PMID:27023846 mitoribosomes have become functionally specialized for synthesizing mitochondrial membrane proteins |
| GO:0005743 mitochondrial inner membrane | TAS Reactome:R-HSA-5419271 | KEEP AS NON CORE | Summary: Inner-membrane localization asserted from Reactome mitochondrial translation events, a mitoribosome review, and ARBA. Reason: The mammalian mitoribosome is peripherally associated with the matrix face of the inner membrane (via large-subunit contacts) to allow co-translational membrane insertion of its hydrophobic products. MRPS7 is a small-subunit head protein in the matrix-exposed particle, not a membrane protein; its primary location is the mitochondrial small ribosomal subunit in the matrix. The inner-membrane annotation reflects the whole-particle association and is kept as non-core. Supporting Evidence: PMID:27023846 mitoribosomes have become functionally specialized for synthesizing mitochondrial membrane proteins |
| GO:0005743 mitochondrial inner membrane | TAS Reactome:R-HSA-5419273 | KEEP AS NON CORE | Summary: Inner-membrane localization asserted from Reactome mitochondrial translation events, a mitoribosome review, and ARBA. Reason: The mammalian mitoribosome is peripherally associated with the matrix face of the inner membrane (via large-subunit contacts) to allow co-translational membrane insertion of its hydrophobic products. MRPS7 is a small-subunit head protein in the matrix-exposed particle, not a membrane protein; its primary location is the mitochondrial small ribosomal subunit in the matrix. The inner-membrane annotation reflects the whole-particle association and is kept as non-core. Supporting Evidence: PMID:27023846 mitoribosomes have become functionally specialized for synthesizing mitochondrial membrane proteins |
| GO:0005743 mitochondrial inner membrane | TAS Reactome:R-HSA-5419277 | KEEP AS NON CORE | Summary: Inner-membrane localization asserted from Reactome mitochondrial translation events, a mitoribosome review, and ARBA. Reason: The mammalian mitoribosome is peripherally associated with the matrix face of the inner membrane (via large-subunit contacts) to allow co-translational membrane insertion of its hydrophobic products. MRPS7 is a small-subunit head protein in the matrix-exposed particle, not a membrane protein; its primary location is the mitochondrial small ribosomal subunit in the matrix. The inner-membrane annotation reflects the whole-particle association and is kept as non-core. Supporting Evidence: PMID:27023846 mitoribosomes have become functionally specialized for synthesizing mitochondrial membrane proteins |
| GO:0005743 mitochondrial inner membrane | TAS Reactome:R-HSA-5419281 | KEEP AS NON CORE | Summary: Inner-membrane localization asserted from Reactome mitochondrial translation events, a mitoribosome review, and ARBA. Reason: The mammalian mitoribosome is peripherally associated with the matrix face of the inner membrane (via large-subunit contacts) to allow co-translational membrane insertion of its hydrophobic products. MRPS7 is a small-subunit head protein in the matrix-exposed particle, not a membrane protein; its primary location is the mitochondrial small ribosomal subunit in the matrix. The inner-membrane annotation reflects the whole-particle association and is kept as non-core. Supporting Evidence: PMID:27023846 mitoribosomes have become functionally specialized for synthesizing mitochondrial membrane proteins |
| GO:0005743 mitochondrial inner membrane | TAS Reactome:R-HSA-9937394 | KEEP AS NON CORE | Summary: Inner-membrane localization asserted from Reactome mitochondrial translation events, a mitoribosome review, and ARBA. Reason: The mammalian mitoribosome is peripherally associated with the matrix face of the inner membrane (via large-subunit contacts) to allow co-translational membrane insertion of its hydrophobic products. MRPS7 is a small-subunit head protein in the matrix-exposed particle, not a membrane protein; its primary location is the mitochondrial small ribosomal subunit in the matrix. The inner-membrane annotation reflects the whole-particle association and is kept as non-core. Supporting Evidence: PMID:27023846 mitoribosomes have become functionally specialized for synthesizing mitochondrial membrane proteins |
| GO:0005743 mitochondrial inner membrane | TAS Reactome:R-HSA-9937412 | KEEP AS NON CORE | Summary: Inner-membrane localization asserted from Reactome mitochondrial translation events, a mitoribosome review, and ARBA. Reason: The mammalian mitoribosome is peripherally associated with the matrix face of the inner membrane (via large-subunit contacts) to allow co-translational membrane insertion of its hydrophobic products. MRPS7 is a small-subunit head protein in the matrix-exposed particle, not a membrane protein; its primary location is the mitochondrial small ribosomal subunit in the matrix. The inner-membrane annotation reflects the whole-particle association and is kept as non-core. Supporting Evidence: PMID:27023846 mitoribosomes have become functionally specialized for synthesizing mitochondrial membrane proteins |
| GO:0005743 mitochondrial inner membrane | TAS Reactome:R-HSA-9937415 | KEEP AS NON CORE | Summary: Inner-membrane localization asserted from Reactome mitochondrial translation events, a mitoribosome review, and ARBA. Reason: The mammalian mitoribosome is peripherally associated with the matrix face of the inner membrane (via large-subunit contacts) to allow co-translational membrane insertion of its hydrophobic products. MRPS7 is a small-subunit head protein in the matrix-exposed particle, not a membrane protein; its primary location is the mitochondrial small ribosomal subunit in the matrix. The inner-membrane annotation reflects the whole-particle association and is kept as non-core. Supporting Evidence: PMID:27023846 mitoribosomes have become functionally specialized for synthesizing mitochondrial membrane proteins |
| GO:0005743 mitochondrial inner membrane | TAS Reactome:R-HSA-9937719 | KEEP AS NON CORE | Summary: Inner-membrane localization asserted from Reactome mitochondrial translation events, a mitoribosome review, and ARBA. Reason: The mammalian mitoribosome is peripherally associated with the matrix face of the inner membrane (via large-subunit contacts) to allow co-translational membrane insertion of its hydrophobic products. MRPS7 is a small-subunit head protein in the matrix-exposed particle, not a membrane protein; its primary location is the mitochondrial small ribosomal subunit in the matrix. The inner-membrane annotation reflects the whole-particle association and is kept as non-core. Supporting Evidence: PMID:27023846 mitoribosomes have become functionally specialized for synthesizing mitochondrial membrane proteins |
| GO:0005743 mitochondrial inner membrane | TAS Reactome:R-HSA-9937724 | KEEP AS NON CORE | Summary: Inner-membrane localization asserted from Reactome mitochondrial translation events, a mitoribosome review, and ARBA. Reason: The mammalian mitoribosome is peripherally associated with the matrix face of the inner membrane (via large-subunit contacts) to allow co-translational membrane insertion of its hydrophobic products. MRPS7 is a small-subunit head protein in the matrix-exposed particle, not a membrane protein; its primary location is the mitochondrial small ribosomal subunit in the matrix. The inner-membrane annotation reflects the whole-particle association and is kept as non-core. Supporting Evidence: PMID:27023846 mitoribosomes have become functionally specialized for synthesizing mitochondrial membrane proteins |
| GO:0005763 mitochondrial small ribosomal subunit | IBA GO_REF:0000033 | ACCEPT | Summary: MRPS7 is a component of the mitochondrial small (28S) ribosomal subunit. Reason: Core cellular component, supported by the cryo-EM structure of the human mitoribosome, ortholog data and patient-cell assembly defects. Supporting Evidence: PMID:25556185 MRPS7 is a 12S ribosomal RNA-binding subunit of the small mitochondrial ribosomal subunit |
| GO:0005763 mitochondrial small ribosomal subunit | IDA PMID:25838379 Ribosome. The structure of the human mitochondrial ribosome. | ACCEPT | Summary: MRPS7 is a component of the mitochondrial small (28S) ribosomal subunit. Reason: Core cellular component, supported by the cryo-EM structure of the human mitoribosome, ortholog data and patient-cell assembly defects. Supporting Evidence: PMID:25556185 MRPS7 is a 12S ribosomal RNA-binding subunit of the small mitochondrial ribosomal subunit |
| GO:0005763 mitochondrial small ribosomal subunit | IEA GO_REF:0000117 | ACCEPT | Summary: MRPS7 is a component of the mitochondrial small (28S) ribosomal subunit. Reason: Core cellular component, supported by the cryo-EM structure of the human mitoribosome, ortholog data and patient-cell assembly defects. Supporting Evidence: PMID:25556185 MRPS7 is a 12S ribosomal RNA-binding subunit of the small mitochondrial ribosomal subunit |
| GO:0005763 mitochondrial small ribosomal subunit | ISS GO_REF:0000024 | ACCEPT | Summary: MRPS7 is a component of the mitochondrial small (28S) ribosomal subunit. Reason: Core cellular component, supported by the cryo-EM structure of the human mitoribosome, ortholog data and patient-cell assembly defects. Supporting Evidence: PMID:25556185 MRPS7 is a 12S ribosomal RNA-binding subunit of the small mitochondrial ribosomal subunit |
| GO:0005763 mitochondrial small ribosomal subunit | NAS PMID:25838379 Ribosome. The structure of the human mitochondrial ribosome. | ACCEPT | Summary: MRPS7 is a component of the mitochondrial small (28S) ribosomal subunit. Reason: Core cellular component, supported by the cryo-EM structure of the human mitoribosome, ortholog data and patient-cell assembly defects. Supporting Evidence: PMID:25556185 MRPS7 is a 12S ribosomal RNA-binding subunit of the small mitochondrial ribosomal subunit |
| GO:0005840 ribosome | IBA GO_REF:0000033 | ACCEPT | Summary: PAINT inference that uS7 family members act in the ribosome. Reason: Correct for MRPS7, which acts in the mitochondrial ribosome; the more specific mitochondrial small ribosomal subunit term is also annotated. |
| GO:0006412 translation | IBA GO_REF:0000033 | ACCEPT | Summary: uS7 family participation in translation (IBA and InterPro). Reason: Correct; for MRPS7 the specific process is mitochondrial translation (GO:0032543), also annotated. |
| GO:0006412 translation | IEA GO_REF:0000002 | ACCEPT | Summary: uS7 family participation in translation (IBA and InterPro). Reason: Correct; for MRPS7 the specific process is mitochondrial translation (GO:0032543), also annotated. |
| GO:0019843 rRNA binding | IBA GO_REF:0000033 | ACCEPT | Summary: PAINT inference of rRNA binding from bacterial S7, which binds the 3' major domain of 16S rRNA. Reason: Supported for the human protein, described as a 12S rRNA-binding subunit of the small mitoribosomal subunit, and patient MRPS7 deficiency lowers 12S rRNA levels, restored by wild-type MRPS7. Supporting Evidence: PMID:25556185 MRPS7 is a 12S ribosomal RNA-binding subunit of the small mitochondrial ribosomal subunit PMID:25556185 reduced 12S rRNA transcript levels observed in the patient's fibroblasts were also restored to normal levels by exogenous expression of wild-type MRPS7 |
| GO:0032543 mitochondrial translation | ISS GO_REF:0000024 | ACCEPT | Summary: MRPS7 participates in mitochondrial translation as a mitoribosomal protein. Reason: Core process. A homozygous MRPS7 missense variant impairs small-subunit assembly and causes combined respiratory-chain deficiency, rescued by wild-type MRPS7. Supporting Evidence: PMID:25556185 Exogenous expression of wild-type MRPS7 in patient fibroblasts rescued complexes I and IV activities, demonstrating the deleterious effect of the mutation on RC function |
| GO:0032543 mitochondrial translation | NAS PMID:27023846 Structure and Function of the Mitochondrial Ribosome. | ACCEPT | Summary: MRPS7 participates in mitochondrial translation as a mitoribosomal protein. Reason: Core process. A homozygous MRPS7 missense variant impairs small-subunit assembly and causes combined respiratory-chain deficiency, rescued by wild-type MRPS7. Supporting Evidence: PMID:25556185 Exogenous expression of wild-type MRPS7 in patient fibroblasts rescued complexes I and IV activities, demonstrating the deleterious effect of the mutation on RC function |
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Download this section (compressed HTML)Q: Does uS7m contact mRNA or E-site tRNA in the remodelled mRNA exit channel of the human mitoribosome, as bacterial uS7 does?
Q: At which stage of small-subunit assembly is uS7m incorporated, and does the pathogenic variant block head assembly specifically?
Experiment: Mitoribosome assembly profiling (sucrose gradients plus quantitative proteomics) in MRPS7-knockout or patient-variant cells to map which small-subunit proteins depend on uS7m for incorporation.
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