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Details on Person UniProt:P52815 MRPL12
| Class:Id | ReferenceGeneProduct:63313 |
|---|---|
| _chainChangeLog | transit peptide:1-45 added on Sat February 7 2015;chain:46-198 added on Sat February 7 2015;transit peptide:1-45 for 63313 removed on Fri Feb 21 2025;chain:46-198 for 63313 removed on Fri Feb 21 2025;transit peptide:1-36 for 63313 added on Fri Feb 21 2025;chain:37-198 for 63313 added on Fri Feb 21 2025;chain:45-198 for 63313 added on Fri Feb 21 2025 |
| _displayName | UniProt:P52815 MRPL12 |
| _timestamp | 2025-08-15 21:02:57 |
| chain | transit peptide:1-36 chain:37-198 chain:45-198 |
| checksum | 7F26BEDE9218CEF0 |
| comment | FUNCTION As a component of the mitochondrial large ribosomal subunit, plays a role in mitochondrial translation (PubMed:23603806). When present in mitochondria as a free protein not associated with the ribosome, associates with mitochondrial RNA polymerase POLRMT to activate transcription (PubMed:22003127). Required for POLRMT stability (PubMed:26586915).SUBUNIT Component of the mitochondrial large ribosomal subunit (mt-LSU) (PubMed:8626705). 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 (Probable). bL12m interacts with NOA1 (PubMed:19103604).INTERACTION Two mature forms are produced by differential two-step proteolytic cleavage (PubMed:26586915). Cleaved by the mitochondrial processing protease to produce the long mature form and subsequently by the mitochondrial intermediate protease to produce the short mature form (PubMed:26586915).PTM In the presence of CUL3, undergoes 'Lys-63'-linked ubiquitination at Lys-150 which results in proteasomal degradation.DISEASE The disease may be caused by variants affecting the gene represented in this entry.MISCELLANEOUS High-glucose conditions in renal tubular epithelial cells lead to up-regulation of CUL3 expression, significant increase in CUL3-mediated ubiquitination of MRPL12 and dysregulation of mitochondrial biosynthesis.SIMILARITY Belongs to the bacterial ribosomal protein bL12 family. |
| description | recommendedName: fullName evidence="11"Large ribosomal subunit protein bL12m alternativeName: 39S ribosomal protein L12, mitochondrial shortName: L12mt shortName: MRP-L12 alternativeName: 5c5-2 component recommendedName: fullName evidence="12"Large ribosomal subunit protein bL12m, long mature form /component component recommendedName: fullName evidence="12"Large ribosomal subunit protein bL12m, short mature form /component |
| geneName | MRPL12 MRPL7 RPML12 |
| identifier | P52815 |
| isSequenceChanged | FALSE |
| keyword | 3D-structure Acetylation Direct protein sequencing Disease variant Isopeptide bond Mitochondrion Primary mitochondrial disease Proteomics identification Reference proteome Ribonucleoprotein Ribosomal protein Transit peptide Ubl conjugation |
| modified | [InstanceEdit:9836292] Weiser, Joel, 2023-05-25 [InstanceEdit:9841277] Weiser, Joel [InstanceEdit:9852000] Weiser, Joel, 2023-11-03 [InstanceEdit:9926675] Weiser, Joel, 2024-11-03 [InstanceEdit:9939033] Weiser, Joel, 2025-02-21 [InstanceEdit:9963647] Weiser, Joel, 2025-08-15 |
| name | MRPL12 |
| referenceDatabase | [ReferenceDatabase:2] UniProt |
| referenceGene | [ReferenceDNASequence:8989188] ENSEMBL:ENSG00000262814 MRPL12 [Homo sapiens] |
| secondaryIdentifier | RM12_HUMAN Q969U0 Q9HCA2 Q9UQJ3 |
| sequenceLength | 198 |
| species | [Species:48887] Homo sapiens |
| (referenceEntity) | [EntityWithAccessionedSequence:5368256] MRPL12 [mitochondrial inner membrane] [Homo sapiens] [EntityWithAccessionedSequence:9839674] MRPL12 [mitochondrial matrix] [Homo sapiens] |
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No pathways have been reviewed or authored by UniProt:P52815 MRPL12 (63313)
