| UniProt Protein Function: | MRPL3: Defects in MRPL3 are the cause of combined oxidative phosphorylation deficiency type 9 (COXPD9). A mitochondrial disease characterized by failure to thrive, poor feeding, hypertrophic cardiomyopathy, hepatomegaly, and psychomotor retardation. Death in infancy has been observed in some cases. Belongs to the ribosomal protein L3P family.Protein type: Mitochondrial; Ribosomal; Translation; RNA-bindingChromosomal Location of Human Ortholog: 3q21-q23Cellular Component: mitochondrial inner membrane; mitochondrial large ribosomal subunitMolecular Function: structural constituent of ribosome; RNA bindingBiological Process: mitochondrial translation; translation; organelle organization and biogenesisDisease: Combined Oxidative Phosphorylation Deficiency 9 |
| UniProt Protein Details: | |
| NCBI Summary: | Mammalian mitochondrial ribosomal proteins are encoded by nuclear genes and help in protein synthesis within the mitochondrion. Mitochondrial ribosomes (mitoribosomes) consist of a small 28S subunit and a large 39S subunit. They have an estimated 75% protein to rRNA composition compared to prokaryotic ribosomes, where this ratio is reversed. Another difference between mammalian mitoribosomes and prokaryotic ribosomes is that the latter contain a 5S rRNA. Among different species, the proteins comprising the mitoribosome differ greatly in sequence, and sometimes in biochemical properties, which prevents easy recognition by sequence homology. This gene encodes a 39S subunit protein that belongs to the L3P ribosomal protein family. A pseudogene corresponding to this gene is found on chromosome 13q. [provided by RefSeq, Jul 2008] |
| UniProt Code: | P09001 |
| NCBI GenInfo Identifier: | 6005862 |
| NCBI Gene ID: | 11222 |
| NCBI Accession: | NP_009139.1 |
| UniProt Secondary Accession: | P09001,Q6IBT2 |
| UniProt Related Accession: | P09001 |
| Molecular Weight: | 38,633 Da |
| NCBI Full Name: | 39S ribosomal protein L3, mitochondrial |
| NCBI Synonym Full Names: | mitochondrial ribosomal protein L3 |
| NCBI Official Symbol: | MRPL3 |
| NCBI Official Synonym Symbols: | MRL3; RPML3; COXPD9 |
| NCBI Protein Information: | 39S ribosomal protein L3, mitochondrial; L3mt; MRP-L3; mitochondrial 60S ribosomal protein L3 |
| UniProt Protein Name: | 39S ribosomal protein L3, mitochondrial |
| UniProt Synonym Protein Names: | |
| Protein Family: | 39S ribosomal protein |
| UniProt Gene Name: | MRPL3 |
| UniProt Entry Name: | RM03_HUMAN |
