TWNK Gene Summary [Human]
This gene encodes a hexameric DNA helicase which unwinds short stretches of double-stranded DNA in the 5' to 3' direction and, along with mitochondrial single-stranded DNA binding protein and mtDNA polymerase gamma, is thought to play a key role in mtDNA replication. The protein localizes to the mitochondrial matrix and mitochondrial nucleoids. Mutations in this gene cause infantile onset spinocerebellar ataxia (IOSCA) and progressive external ophthalmoplegia (PEO) and are also associated with several mitochondrial depletion syndromes. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Aug 2009]
Details
| Type | Protein Coding |
| Official Symbol | TWNK |
| Official Name | twinkle mtDNA helicase [Source:HGNC Symbol;Acc:HGNC:1160] |
| Ensembl ID | ENSG00000107815 |
| Bio databases IDs | |
| Aliases | twinkle mtDNA helicase, T7 helicase-related protein with intramitochondrial nucleoid localization |
| Synonyms | ATXN8, C10orf2, D19Ertd626e, IOSCA, MTDPS7, PEO, PEO1, PEOA3, PRLTS5, SANDO, SCA8, TWINKLE, twinkle mtDNA helicase, TWINL |
| 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 TWNK often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- lipid binding
- protease binding
- TOPRIM
- enzyme
- protein binding
- identical protein binding
- ATPase
- DNA helicase
- AAA domain
- single-stranded DNA binding
- KaiC
- N-terminal helicase domain of the DEAD-box helicase superfamily
- P-loop containing Nucleoside Triphosphate Hydrolases
- ATPases associated with a variety of cellular activities
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
- infantile-onset spinocerebellar ataxia
- autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3
- auditory neuropathy
- Perrault syndrome type 5
- autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 1
- digenic progressive external ophthalmoplegia with mitochondrial DNA deletions
- gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance
- progressive external ophthalmoplegia with mitochondrial DNA deletions
- cardiomyopathy
role in cell
- production in
- phosphorylation in
- cell death
- mitochondrial respiration in
- binding in
- stalling
- fragmentation
- stalling in
- fragmentation in
- spare respiratory capacity
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 TWNK gene, providing context for its role in the cell.
Biological Process
Functions and activities the gene product is involved in
- transcription from mitochondrial promoter
- cellular response to glucose stimulus
- protein hexamerization
- mitochondrial DNA replication
- DNA unwinding involved in replication
Cellular Component
Where in the cell the gene product is active
- mitochondrial matrix
- mitochondrion
- mitochondrial inner membrane
- mitochondrial nucleoid
Molecular Function
What the gene product does at the molecular level
- ATPase activity
- ATP binding
- DNA helicase activity
- identical protein binding
- protease binding
- lipid binding
- isomerase activity
- single-stranded DNA binding
- 5'-3' DNA helicase activity