MRPL44 Gene Summary [Human]
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. [provided by RefSeq, Jul 2008]
Details
| Type | Protein Coding |
| Official Symbol | MRPL44 |
| Official Name | mitochondrial ribosomal protein L44 [Source:HGNC Symbol;Acc:HGNC:16650] |
| Ensembl ID | ENSG00000135900 |
| Bio databases IDs | |
| Aliases | mitochondrial ribosomal protein L44, 39S ribosomal protein L44, mitochondrial |
| Synonyms | 1810030E18Rik, 5730593H20Rik, COXPD16, L44MT, mitochondrial ribosomal protein L44, mL44 |
| Species | Human, Homo sapiens |
| Orthologies |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MRPL44 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- double-stranded RNA binding motif (DSRM) superfamily
- enzyme
- protein binding
- RIBOc
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- combined oxidative phosphorylation deficiency 16
- insulin resistance
- global developmental delay
- infantile hypertrophic cardiomyopathy
- hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
- mitochondrial disorder
- productive infection by HIV-1
role in cell
- elongation in
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- ribosome
- Plasma Membrane
- Mitochondria
- mitochondrial inner membrane
- nucleoplasm
- nuclear bodies
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human MRPL44 gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- mitochondrial translation
- RNA processing
- mitochondrial translational elongation
Cellular Component
Where in the cell the gene product is active
- nucleus
- nuclear body
- mitochondrion
- mitochondrial large ribosomal subunit
- mitochondrial inner membrane
- plasma membrane
- microprocessor complex
- nucleoplasm
Molecular Function
What the gene product does at the molecular level
- ribonuclease III activity
- protein binding
- RNA binding
- double-stranded RNA binding