TWNK (twinkle mtDNA helicase)

2016-10-01  

Identity

HGNC
LOCATION
10q24.31
LOCUSID
ALIAS
ATXN8,C10orf2,IOSCA,MTDPS7,PEO,PEO1,PEOA3,PRLTS5,SANDO,SCA8,TWINL

Other Information

Locus ID:

NCBI: 56652
MIM: 606075
HGNC: 1160
Ensembl: ENSG00000107815

Variants:

dbSNP: 56652
ClinVar: 56652
TCGA: ENSG00000107815
COSMIC: TWNK

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000107815ENST00000311916Q96RR1
ENSG00000107815ENST00000311916E5KSY5
ENSG00000107815ENST00000370228Q96RR1
ENSG00000107815ENST00000459764A0A2R8Y8D3
ENSG00000107815ENST00000473656A0A2R8Y4V4
ENSG00000107815ENST00000476766A0A2R8Y746
ENSG00000107815ENST00000643860Q96RR1
ENSG00000107815ENST00000647109A0A2R8YF85
ENSG00000107815ENST00000650396A0A3B3IT76

Expression (GTEx)

0
5
10
15
20
25

Pathways

PathwaySourceExternal ID
Organelle biogenesis and maintenanceREACTOMER-HSA-1852241
Mitochondrial biogenesisREACTOMER-HSA-1592230
Transcriptional activation of mitochondrial biogenesisREACTOMER-HSA-2151201

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
126866112003Composition and dynamics of human mitochondrial nucleoids.116
163854512006A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.69
189712042009Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling.55
179211792007Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion.51
177221192007Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion.50
161355562005Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.46
251936692014DNA sequences proximal to human mitochondrial DNA deletion breakpoints prevalent in human disease form G-quadruplexes, a class of DNA structures inefficiently unwound by the mitochondrial replicative Twinkle helicase.38
151811702004Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA.34
174203182007Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.28
180397132008The N-terminal domain of TWINKLE contributes to single-stranded DNA binding and DNA helicase activities.28

Citation

Dessen P

TWNK (twinkle mtDNA helicase)

Atlas Genet Cytogenet Oncol Haematol. 2016-10-01

Online version: http://atlasgeneticsoncology.org/gene/56615/twnk