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).^[5]^[6]^[7]^[8]^[9]

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.^[5]^[8] A homolog (B5X582) is found in Arabidopsis thaliana chloroplast and mitochondria.^[10]

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000107815 – Ensembl, May 2017
^ ^a ^b ^c GRCm38: Ensembl release 89: ENSMUSG00000025209 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ ^a ^b Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, et al. (July 2001). "Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria". Nature Genetics. 28 (3): 223–31. doi:10.1038/90058. PMID 11431692. S2CID 22237030.
^ Leipe DD, Aravind L, Grishin NV, Koonin EV (January 2000). "The bacterial replicative helicase DnaB evolved from a RecA duplication". Genome Research. 10 (1): 5–16. doi:10.1101/gr.10.1.5 (inactive 31 January 2024). PMID 10645945.{{cite journal}}: CS1 maint: DOI inactive as of January 2024 (link)
^ Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lönnqvist T, Peltonen L (October 2005). "Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky". Human Molecular Genetics. 14 (20): 2981–90. doi:10.1093/hmg/ddi328. PMID 16135556.
^ ^a ^b "Entrez Gene: PEO1 progressive external ophthalmoplegia 1".
^ Cite error: The named reference GHR TWNK was invoked but never defined (see the help page).
^ Diray-Arce, J; Liu, B; Cupp, JD; Hunt, T; Nielsen, BL (4 March 2013). "The Arabidopsis At1g30680 gene encodes a homologue to the phage T7 gp4 protein that has both DNA primase and DNA helicase activities". BMC Plant Biology. 13: 36. doi:10.1186/1471-2229-13-36. PMC 3610141. PMID 23452619.

[refGRCh38Ensembl-1] GRCh38: Ensembl release 89: ENSG00000107815 – Ensembl, May 2017

[refGRCm38Ensembl-2] GRCm38: Ensembl release 89: ENSMUSG00000025209 – Ensembl, May 2017

[3] "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[4] "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.

[pmid11431692-5] Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, et al. (July 2001). "Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria". Nature Genetics. 28 (3): 223–31. doi:10.1038/90058. PMID 11431692. S2CID 22237030.

[pmid10645945-6] Leipe DD, Aravind L, Grishin NV, Koonin EV (January 2000). "The bacterial replicative helicase DnaB evolved from a RecA duplication". Genome Research. 10 (1): 5–16. doi:10.1101/gr.10.1.5 (inactive 31 January 2024). PMID 10645945.{{cite journal}}: CS1 maint: DOI inactive as of January 2024 (link)

[pmid16135556-7] Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lönnqvist T, Peltonen L (October 2005). "Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky". Human Molecular Genetics. 14 (20): 2981–90. doi:10.1093/hmg/ddi328. PMID 16135556.

[entrez-8] "Entrez Gene: PEO1 progressive external ophthalmoplegia 1".

[GHR_TWNK-9] Cite error: The named reference GHR TWNK was invoked but never defined (see the help page).

[10] Diray-Arce, J; Liu, B; Cupp, JD; Hunt, T; Nielsen, BL (4 March 2013). "The Arabidopsis At1g30680 gene encodes a homologue to the phage T7 gp4 protein that has both DNA primase and DNA helicase activities". BMC Plant Biology. 13: 36. doi:10.1186/1471-2229-13-36. PMC 3610141. PMID 23452619.

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Twinkle (protein)

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