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 is a mitochondrial protein that in humans is encoded by the C10orf2 gene.^[5]^[6]^[7]^[8]

Template:PBB Summary

References

^ ^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.
^ Spelbrink JN, Li FY, Tiranti V, Nikali K, Yuan QP, Tariq M, Wanrooij S, Garrido N, Comi G, Morandi L, Santoro L, Toscano A, Fabrizi GM, Somer H, Croxen R, Beeson D, Poulton J, Suomalainen A, Jacobs HT, Zeviani M, Larsson C (Jun 2001). "Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria". Nat Genet. 28 (3): 223–31. doi:10.1038/90058. PMID 11431692.
^ Leipe DD, Aravind L, Grishin NV, Koonin EV (Mar 2000). "The bacterial replicative helicase DnaB evolved from a RecA duplication". Genome Res. 10 (1): 5–16. doi:10.1101/gr.10.1.5. PMID 10645945.
^ Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lonnqvist T, Peltonen L (Oct 2005). "Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky". Hum Mol Genet. 14 (20): 2981–90. doi:10.1093/hmg/ddi328. PMID 16135556.
^ "Entrez Gene: PEO1 progressive external ophthalmoplegia 1".

References

Further reading