twinkle protein, mitochondrial; T7 gp4-like protein with intramitochondrial nucleoid localization; T7-like mitochondrial DNA helicase; Progressive external ophthalmoplegia 1 protein (PEO1, C10orf2)
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Function
- role in mitochondrial DNA (mtDNA) metabolism.
- has helicase activity
- may be a key regulator of mtDNA copy number in mammals
- role in lifetime maintenance of mtDNA integrity
- in vitro, forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA as template to synthesize single-stranded DNA
- forms multimers in vitro, including hexamers
- interacts with POLG in vitro
Structure
contains 1 SF4 helicase domain
Compartment
- mitochondrial matrix, mitochondrial nucleoid
- colocalizes with mtDNA in mitochondrial nucleoids, a nucleoproteins complex consisting of a number of copies of proteins associated with mtDNA, probably involved in mtDNA maintenance & expression
Alternative splicing
named isoforms=3
Expression
- high relative levels in skeletal muscle, testis & pancreas
- lower levels of expression in the heart, brain, placenta, lung, liver, kidney, spleen, thymus, prostate, ovary, small intestine, colon & leukocytes.
- expression is coregulated with MRPL43
Pathology
- defects in PEO1 are the cause
- defects in PEO1 are a cause of
Genetics
- nuclear encoded mitochondrial protein
Notes
More general terms
- helicase (DNA unwinding protein, DNA untwisting protein)
- oligomerizing protein
- mitochondrial protein
Additional terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/Q96RR1.html
- ↑ GeneReviews http://www.ncbi.nlm.nih.gov/sites/genetests/lab/gene/C10orf2
- ↑ 3.0 3.1 NIEHS-SNPs http://egp.gs.washington.edu/data/peo1/
- ↑ OMIM https://mirror.omim.org/entry/606075
- ↑ Spelbrink JN et al Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nature Genetics 28:223, 2001 PMID: https://www.ncbi.nlm.nih.gov/pubmed/11431692
Database
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=56652
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:56652
- OMIM: https://mirror.omim.org/entry/251880
- OMIM: https://mirror.omim.org/entry/271245
- OMIM: https://mirror.omim.org/entry/606075
- OMIM: https://mirror.omim.org/entry/607459
- OMIM: https://mirror.omim.org/entry/609286
- UniProt: http://www.uniprot.org/uniprot/Q96RR1.html