MT-RNR1 Gene Summary [Human]
Enables DNA binding activity and DNA-binding transcription factor binding activity. Involved in several processes, including osteoblast proliferation; regulation of carbohydrate utilization; and regulation of phosphate metabolic process. Located in extracellular space; mitochondrion; and nucleus. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Mitochondrial Ribosomal RNA |
| Official Symbol | MT-RNR1 |
| Official Name | mitochondrially encoded 12S rRNA [Source:HGNC Symbol;Acc:HGNC:7470] |
| Ensembl ID | ENSG00000211459 |
| Bio databases IDs | |
| Aliases | mitochondrially encoded 12S rRNA, mitochondrial open-reading-frame of the twelve S rRNA type-c, mitochondrially encoded 12S ribosomal RNA |
| Synonyms | 12S, 12S ribosomal, ENSMUSG00000064337, mt-Rnr1-201, RNR1, s-rRNA |
| Species | Human, Homo sapiens |
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 MT-RNR1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- structural constituent of ribosome
Pathways
Biological processes and signaling networks where the MT-RNR1 gene in human plays a role, providing insight into its function and relevance in health or disease.
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- mitochondrial disorder
- mitochondrially inherited nonsyndromic sensorineural deafness
- aminoglycoside-induced deafness
- auditory neuropathy
- Huntington disease
role in cell
- transmembrane potential
- translation 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
- mitochondrial matrix