Twinkle (protein)

TWNK
Identifiers
Aliases	TWNK, ATXN8, IOSCA, MTDPS7, PEO, PEO1, PEOA3, SANDO, SCA8, TWINL, PRLTS5, C10orf2, chromosome 10 open reading frame 2, twinkle mtDNA helicase
External IDs	OMIM: 606075; MGI: 2137410; HomoloGene: 11052; GeneCards: TWNK; OMA:TWNK - orthologs
Gene location (Human)
Chr.	Chromosome 10 (human)
End	100,994,403 bp
Gene location (Mouse)
Chr.	Chromosome 19 (mouse)
End	45,001,201 bp
RNA expression pattern
	Top expressed in
	testicle; ; gastrocnemius muscle; ; ventricular zone; ; gonad; ; ganglionic eminence; ; glutes; ; left adrenal gland; ; left adrenal cortex; ; mucosa of transverse colon; ; right adrenal gland;
	Top expressed in
	epiblast; ; interventricular septum; ; autopod region; ; superior cervical ganglion; ; muscle of thigh; ; cumulus cell; ; foot; ; ventricular zone; ; abdominal wall; ; otic vesicle;
	More reference expression data
	More reference expression data
Gene ontology
Molecular function	protease binding; nucleotide binding; DNA helicase activity; hydrolase activity; ATP binding; helicase activity; single-stranded DNA binding; 5'-3' DNA helicase activity;
Cellular component	mitochondrial matrix; mitochondrial nucleoid; mitochondrion;
Biological process	mitochondrial transcription; DNA replication; mitochondrion organization; protein homooligomerization; mitochondrial DNA replication; protein hexamerization; cellular response to glucose stimulus; DNA unwinding involved in DNA replication;
	Sources:Amigo / QuickGO
Orthologs
	56652
	226153
	ENSG00000107815
	ENSMUSG00000025209
	Q96RR1
	Q8CIW5
	NM_001163812; NM_001163813; NM_001163814; NM_021830; NM_001368275
	NM_153796; NM_001348254; NM_001348259
	NP_001157284; NP_001157285; NP_001157286; NP_068602; NP_001355204
	NP_722491; NP_001335183; NP_001335188
	Wikidata
View/Edit Human	View/Edit Mouse

Twinkle protein also known as twinkle mtDNA helicase is a mitochondrial protein that in humans is encoded by the TWNK gene (also known as C10orf2 or PEO1) located in the long arm of chromosome 10 (10q24.31).

Twinkle is a mitochondrial protein with structural similarity to the phage T7 primase/helicase (GP4) and other hexameric ring helicases. The twinkle protein colocalizes with mtDNA in mitochondrial nucleoids, and its name derives from the unusual localization pattern reminiscent of twinkling stars. A homolog (B5X582) is found in Arabidopsis thaliana chloroplast and mitochondria.