PEO1

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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 MGI: 2137410 HomoloGene: 11052 GeneCards: TWNK
Gene location (Human)
Chromosome 10 (human)
Chr. Chromosome 10 (human)[1]
Chromosome 10 (human)
Genomic location for TWNK
Genomic location for TWNK
Band 10q24.31 Start 100,987,367 bp[1]
End 100,994,401 bp[1]
RNA expression pattern
PBB GE PEO1 218590 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001163812
NM_001163813
NM_001163814
NM_021830

NM_153796
NM_001348254
NM_001348259

RefSeq (protein)

NP_001157284
NP_001157285
NP_001157286
NP_068602

NP_722491
NP_001335183
NP_001335188

Location (UCSC) Chr 10: 100.99 – 100.99 Mb Chr 10: 45.01 – 45.01 Mb
PubMed search [3] [4]
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]

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 (Spelbrink et al., 2001).[supplied by OMIM][8]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000107815 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025209 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. PMID 11431692. doi:10.1038/90058. 
  6. ^ 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. PMID 10645945. doi:10.1101/gr.10.1.5. 
  7. ^ 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. PMID 16135556. doi:10.1093/hmg/ddi328. 
  8. ^ a b "Entrez Gene: PEO1 progressive external ophthalmoplegia 1". 

Further reading[edit]