POLRMT Gene Summary [Human]
This gene encodes a mitochondrial DNA-directed RNA polymerase. The gene product is responsible for mitochondrial gene expression as well as for providing RNA primers for initiation of replication of the mitochondrial genome. Although this polypeptide has the same function as the three nuclear DNA-directed RNA polymerases, it is more closely related to RNA polymerases of phage and mitochondrial polymerases of lower eukaryotes. [provided by RefSeq, Jul 2008]
Details
| Type | Retained Intron |
| Official Symbol | POLRMT |
| Official Name | RNA polymerase mitochondrial [Source:HGNC Symbol;Acc:HGNC:9200] |
| Ensembl ID | ENSG00000099821 |
| Bio databases IDs | |
| Aliases | RNA polymerase mitochondrial |
| Synonyms | 1110018N15RIK, 4932416K13, APOLMT, COXPD55, h-mtRPOL, MTRNAP, MTRNA POLYMERASE, MTRPOL, POLYMERASE MITOCHONDRIAL, polymerase (RNA) mitochondrial (DNA directed), RNA polymerase mitochondrial |
| 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 POLRMT often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- 3'-5' exoribonuclease
- DNA-directed RNA polymerase
- enzyme
- protein binding
- sequence-specific DNA binding
- DNA-dependent RNA polymerase
- DNA-directed RNA polymerase N-terminal
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-55
- neurodevelopmental disorder
- FLT3 activating mutation positive acute myeloid leukemia
role in cell
- quantity
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
- Mitochondria
- mitochondrial matrix
- mitochondrial nucleoids
Gene Ontology Annotations
Describes the biological processes, cellular components, and molecular functions associated with the human POLRMT gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transcription from mitochondrial promoter
- transcription initiation from mitochondrial promoter
- DNA replication, synthesis of RNA primer
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- macromolecular complex
- mitochondrial DNA-directed RNA polymerase complex
- mitochondrial nucleoid
Molecular Function
What the gene product does at the molecular level
- DNA primase activity
- 3'-5'-exoribonuclease activity
- RNA binding
- DNA-directed RNA polymerase activity
- protein binding
- sequence-specific DNA binding
- mitochondrial RNA polymerase regulatory region DNA binding