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Q96RR1

- PEO1_HUMAN

UniProt

Q96RR1 - PEO1_HUMAN

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Protein

Twinkle protein, mitochondrial

Gene

PEO1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Involved in mitochondrial DNA (mtDNA) metabolism. Could function as an adenine nucleotide-dependent DNA helicase. Function inferred to be critical for lifetime maintenance of mtDNA integrity. In vitro, forms in combination with POLG, a processive replication machinery, which can use double-stranded DNA (dsDNA) as template to synthesize single-stranded DNA (ssDNA) molecules. May be a key regulator of mtDNA copy number in mammals.1 Publication

Catalytic activityi

ATP + H2O = ADP + phosphate.

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi415 – 4228ATPPROSITE-ProRule annotation

GO - Molecular functioni

  1. 5'-3' DNA helicase activity Source: UniProtKB
  2. ATP binding Source: UniProtKB-KW
  3. protease binding Source: UniProtKB
  4. single-stranded DNA binding Source: UniProtKB

GO - Biological processi

  1. cell death Source: UniProtKB-KW
  2. DNA unwinding involved in DNA replication Source: Ensembl
  3. mitochondrial DNA replication Source: UniProtKB
  4. protein hexamerization Source: UniProtKB
  5. protein homooligomerization Source: UniProtKB
  6. transcription from mitochondrial promoter Source: UniProtKB
Complete GO annotation...

Keywords - Molecular functioni

Helicase, Hydrolase

Keywords - Biological processi

DNA replication

Keywords - Ligandi

ATP-binding, Nucleotide-binding

Enzyme and pathway databases

ReactomeiREACT_200608. Transcriptional activation of mitochondrial biogenesis.

Names & Taxonomyi

Protein namesi
Recommended name:
Twinkle protein, mitochondrial (EC:3.6.4.12)
Alternative name(s):
Progressive external ophthalmoplegia 1 protein
T7 gp4-like protein with intramitochondrial nucleoid localization
T7-like mitochondrial DNA helicase
Gene namesi
Name:PEO1
Synonyms:C10orf2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 10

Organism-specific databases

HGNCiHGNC:1160. C10orf2.

Subcellular locationi

Mitochondrion matrixmitochondrion nucleoid 1 Publication
Note: 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 and expression.

GO - Cellular componenti

  1. mitochondrial nucleoid Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Mitochondrion, Mitochondrion nucleoid

Pathology & Biotechi

Involvement in diseasei

Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]: A disorder characterized by progressive weakness of ocular muscles and levator muscle of the upper eyelid. In a minority of cases, it is associated with skeletal myopathy, which predominantly involves axial or proximal muscles and which causes abnormal fatigability and even permanent muscle weakness. Ragged-red fibers and atrophy are found on muscle biopsy. A large proportion of chronic ophthalmoplegias are associated with other symptoms, leading to a multisystemic pattern of this disease. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism.11 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti303 – 3031R → Q in PEOA3. 2 Publications
VAR_065102
Natural varianti303 – 3031R → W in PEOA3; also detected in a case showing digenic inheritance. 4 Publications
VAR_023647
Natural varianti315 – 3151W → L in PEOA3. 1 Publication
VAR_023648
Natural varianti315 – 3151W → S in PEOA3. 1 Publication
VAR_065103
Natural varianti319 – 3191K → E in SANDO; the phenotype highly overlaps with PEOA3. 1 Publication
VAR_023649
Natural varianti319 – 3191K → T in PEOA3. 1 Publication
VAR_023650
Natural varianti334 – 3341R → P in PEOA3. 1 Publication
VAR_065105
Natural varianti335 – 3351P → L in PEOA3. 1 Publication
VAR_023652
Natural varianti354 – 3541R → P in PEOA3. 2 Publications
VAR_023653
Natural varianti357 – 3571R → P in PEOA3. 2 Publications
VAR_065106
Natural varianti359 – 3591A → T in PEOA3. 2 Publications
VAR_023654
Natural varianti362 – 3621A → P in PEOA3. 1 Publication
VAR_065108
Natural varianti363 – 3631W → L in PEOA3. 1 Publication
VAR_065109
Natural varianti367 – 3671I → T in PEOA3. 1 Publication
VAR_023655
Natural varianti369 – 3691S → P in PEOA3. 1 Publication
VAR_023657
Natural varianti369 – 3691S → Y in PEOA3. 1 Publication
VAR_023658
Natural varianti370 – 3701F → C in PEOA3. 1 Publication
VAR_065110
Natural varianti370 – 3701F → L in PEOA3. 1 Publication
VAR_065111
Natural varianti374 – 3741R → Q in PEOA3. 4 Publications
VAR_023659
Natural varianti381 – 3811L → P in PEOA3. 2 Publications
VAR_023660
Natural varianti426 – 4261S → N in PEOA3. 1 Publication
VAR_065112
Natural varianti458 – 4581Q → H in PEOA3. 1 Publication
VAR_065113
Natural varianti460 – 4601A → P in PEOA3. 1 Publication
VAR_065114
Natural varianti474 – 4741W → C in PEOA3. 1 Publication
VAR_023661
Natural varianti474 – 4741W → S in PEOA3. 1 Publication
VAR_065115
Natural varianti475 – 4751A → D in PEOA3. 1 Publication
VAR_065116
Natural varianti475 – 4751A → P in PEOA3. 1 Publication
VAR_023662
Natural varianti478 – 4781F → I in PEOA3. 1 Publication
VAR_065117
Natural varianti479 – 4791E → K in PEOA3. 2 Publications
VAR_065118
Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) [MIM:607459]: A systemic disorder resulting from mitochondrial dysfunction associated with mitochondrial depletion in skeletal muscle and peripheral nerve tissue. The clinical triad of symptoms consists of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis. However, the phenotype varies widely, even within the same family, and can also include myopathy, seizures, and hearing loss. An atypical form of the disease is characterized by headaches and/or seizures manifesting in childhood or adolescence, followed by development of cerebellar and sensory ataxia, dysarthria, progressive external ophthalmoplegia, and myoclonus in early adulthood.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti319 – 3191K → E in SANDO; the phenotype highly overlaps with PEOA3. 1 Publication
VAR_023649
Mitochondrial DNA depletion syndrome 7 (MTDPS7) [MIM:271245]: A severe disease associated with mitochondrial dysfunction. Some patients are affected by progressive atrophy of the cerebellum, brain stem, the spinal cord, and sensory axonal neuropathy. Clinical features include hypotonia, athetosis, ataxia, ophthalmoplegia, sensorineural hearing deficit, sensory axonal neuropathy, epileptic encephalopathy and female hypogonadism. In some individuals liver dysfunction and multi-organ failure is present.5 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti318 – 3181A → T in MTDPS7. 1 Publication
VAR_065104
Natural varianti360 – 3601L → G in MTDPS7; patients manifest multi-organ failure; requires 2 nucleotide substitutions. 1 Publication
VAR_065107
Natural varianti456 – 4561L → V in MTDPS7; infantile spinocerebellar ataxia phenotype. 1 Publication
VAR_067722
Natural varianti457 – 4571T → I in MTDPS7; affects helicase activity. 1 Publication
VAR_039045
Natural varianti508 – 5081Y → C in MTDPS7. 2 Publications
VAR_043797

Keywords - Diseasei

Disease mutation, Neurodegeneration, Neuropathy, Progressive external ophthalmoplegia

Organism-specific databases

MIMi271245. phenotype.
607459. phenotype.
609286. phenotype.
Orphaneti254892. Autosomal dominant progressive external ophthalmoplegia.
1186. Infantile onset spinocerebellar ataxia.
363534. Mitochondrial DNA depletion syndrome, hepatocerebrorenal form.
70595. Sensory ataxic neuropathy - dysarthria - ophthalmoparesis.
PharmGKBiPA162377675.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Transit peptidei1 – 3131MitochondrionSequence AnalysisAdd
BLAST
Chaini32 – 684653Twinkle protein, mitochondrialPRO_0000042640Add
BLAST

Proteomic databases

MaxQBiQ96RR1.
PaxDbiQ96RR1.
PRIDEiQ96RR1.

PTM databases

PhosphoSiteiQ96RR1.

Expressioni

Tissue specificityi

High relative levels in skeletal muscle, testis and pancreas. Lower levels of expression in the heart, brain, placenta, lung, liver, kidney, spleen, thymus, prostate, ovary, small intestine, colon and leukocytes. Expression is coregulated with MRPL43.2 Publications

Gene expression databases

BgeeiQ96RR1.
CleanExiHS_C10orf2.
ExpressionAtlasiQ96RR1. baseline and differential.
GenevestigatoriQ96RR1.

Organism-specific databases

HPAiHPA002532.

Interactioni

Subunit structurei

Forms multimers in vitro, including hexamers. Interacts with POLG in vitro.1 Publication

Protein-protein interaction databases

BioGridi121166. 9 interactions.
IntActiQ96RR1. 5 interactions.
MINTiMINT-1385725.
STRINGi9606.ENSP00000309595.

Structurei

3D structure databases

ProteinModelPortaliQ96RR1.
SMRiQ96RR1. Positions 259-625.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini384 – 635252SF4 helicasePROSITE-ProRule annotationAdd
BLAST

Sequence similaritiesi

Contains 1 SF4 helicase domain.PROSITE-ProRule annotation

Keywords - Domaini

Transit peptide

Phylogenomic databases

eggNOGiNOG29349.
GeneTreeiENSGT00390000004495.
HOGENOMiHOG000273872.
HOVERGENiHBG059782.
InParanoidiQ96RR1.
KOiK17680.
OMAiGSWEDFQ.
OrthoDBiEOG75MVVT.
PhylomeDBiQ96RR1.
TreeFamiTF105994.

Family and domain databases

Gene3Di3.40.50.300. 1 hit.
InterProiIPR007694. DNA_helicase_DnaB-like_C.
IPR027417. P-loop_NTPase.
IPR027032. Twinkle-like.
[Graphical view]
PANTHERiPTHR12873. PTHR12873. 1 hit.
SUPFAMiSSF52540. SSF52540. 1 hit.
PROSITEiPS51199. SF4_HELICASE. 1 hit.
[Graphical view]

Sequences (3)i

Sequence statusi: Complete.

Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q96RR1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MWVLLRSGYP LRILLPLRGE WMGRRGLPRN LAPGPPRRRY RKETLQALDM
60 70 80 90 100
PVLPVTATEI RQYLRGHGIP FQDGHSCLRA LSPFAESSQL KGQTGVTTSF
110 120 130 140 150
SLFIDKTTGH FLCMTSLAEG SWEDFQASVE GRGDGAREGF LLSKAPEFED
160 170 180 190 200
SEEVRRIWNR AIPLWELPDQ EEVQLADTMF GLTKVTDDTL KRFSVRYLRP
210 220 230 240 250
ARSLVFPWFS PGGSGLRGLK LLEAKCQGDG VSYEETTIPR PSAYHNLFGL
260 270 280 290 300
PLISRRDAEV VLTSRELDSL ALNQSTGLPT LTLPRGTTCL PPALLPYLEQ
310 320 330 340 350
FRRIVFWLGD DLRSWEAAKL FARKLNPKRC FLVRPGDQQP RPLEALNGGF
360 370 380 390 400
NLSRILRTAL PAWHKSIVSF RQLREEVLGE LSNVEQAAGL RWSRFPDLNR
410 420 430 440 450
ILKGHRKGEL TVFTGPTGSG KTTFISEYAL DLCSQGVNTL WGSFEISNVR
460 470 480 490 500
LARVMLTQFA EGRLEDQLDK YDHWADRFED LPLYFMTFHG QQSIRTVIDT
510 520 530 540 550
MQHAVYVYDI CHVIIDNLQF MMGHEQLSTD RIAAQDYIIG VFRKFATDNN
560 570 580 590 600
CHVTLVIHPR KEDDDKELQT ASIFGSAKAS QEADNVLILQ DRKLVTGPGK
610 620 630 640 650
RYLQVSKNRF DGDVGVFPLE FNKNSLTFSI PPKNKARLKK IKDDTGPVAK
660 670 680
KPSSGKKGAT TQNSEICSGQ APTPDQPDTS KRSK
Length:684
Mass (Da):77,154
Last modified:December 1, 2001 - v1
Checksum:i58186043888234DA
GO
Isoform 2 (identifier: Q96RR1-2) [UniParc]FASTAAdd to Basket

Also known as: Twinky

The sequence of this isoform differs from the canonical sequence as follows:
     579-582: ASQE → VSGL
     583-684: Missing.

Show »
Length:582
Mass (Da):66,016
Checksum:i8A6A46BDCD5B8C3F
GO
Isoform 3 (identifier: Q96RR1-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     532-684: Missing.

Show »
Length:531
Mass (Da):60,400
Checksum:iB7B4246EC5B6502A
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti351 – 3511N → D in CAE45905. (PubMed:17974005)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti303 – 3031R → Q in PEOA3. 2 Publications
VAR_065102
Natural varianti303 – 3031R → W in PEOA3; also detected in a case showing digenic inheritance. 4 Publications
VAR_023647
Natural varianti315 – 3151W → L in PEOA3. 1 Publication
VAR_023648
Natural varianti315 – 3151W → S in PEOA3. 1 Publication
VAR_065103
Natural varianti318 – 3181A → T in MTDPS7. 1 Publication
VAR_065104
Natural varianti319 – 3191K → E in SANDO; the phenotype highly overlaps with PEOA3. 1 Publication
VAR_023649
Natural varianti319 – 3191K → T in PEOA3. 1 Publication
VAR_023650
Natural varianti334 – 3341R → P in PEOA3. 1 Publication
VAR_065105
Natural varianti334 – 3341R → Q in PEO; sporadic case; the patient also carries the S-848 mutation in the POLG gene suggesting digenic inheritance. 3 Publications
Corresponds to variant rs28937887 [ dbSNP | Ensembl ].
VAR_023651
Natural varianti335 – 3351P → L in PEOA3. 1 Publication
VAR_023652
Natural varianti348 – 3481G → R.1 Publication
VAR_062268
Natural varianti354 – 3541R → P in PEOA3. 2 Publications
VAR_023653
Natural varianti357 – 3571R → P in PEOA3. 2 Publications
VAR_065106
Natural varianti359 – 3591A → T in PEOA3. 2 Publications
VAR_023654
Natural varianti360 – 3601L → G in MTDPS7; patients manifest multi-organ failure; requires 2 nucleotide substitutions. 1 Publication
VAR_065107
Natural varianti362 – 3621A → P in PEOA3. 1 Publication
VAR_065108
Natural varianti363 – 3631W → L in PEOA3. 1 Publication
VAR_065109
Natural varianti367 – 3671I → T in PEOA3. 1 Publication
VAR_023655
Natural varianti368 – 3681V → I.4 Publications
Corresponds to variant rs17113613 [ dbSNP | Ensembl ].
VAR_023656
Natural varianti369 – 3691S → P in PEOA3. 1 Publication
VAR_023657
Natural varianti369 – 3691S → Y in PEOA3. 1 Publication
VAR_023658
Natural varianti370 – 3701F → C in PEOA3. 1 Publication
VAR_065110
Natural varianti370 – 3701F → L in PEOA3. 1 Publication
VAR_065111
Natural varianti374 – 3741R → Q in PEOA3. 4 Publications
VAR_023659
Natural varianti381 – 3811L → P in PEOA3. 2 Publications
VAR_023660
Natural varianti426 – 4261S → N in PEOA3. 1 Publication
VAR_065112
Natural varianti427 – 4271E → G.
Corresponds to variant rs11542126 [ dbSNP | Ensembl ].
VAR_051267
Natural varianti456 – 4561L → V in MTDPS7; infantile spinocerebellar ataxia phenotype. 1 Publication
VAR_067722
Natural varianti457 – 4571T → I in MTDPS7; affects helicase activity. 1 Publication
VAR_039045
Natural varianti458 – 4581Q → H in PEOA3. 1 Publication
VAR_065113
Natural varianti460 – 4601A → P in PEOA3. 1 Publication
VAR_065114
Natural varianti474 – 4741W → C in PEOA3. 1 Publication
VAR_023661
Natural varianti474 – 4741W → S in PEOA3. 1 Publication
VAR_065115
Natural varianti475 – 4751A → D in PEOA3. 1 Publication
VAR_065116
Natural varianti475 – 4751A → P in PEOA3. 1 Publication
VAR_023662
Natural varianti478 – 4781F → I in PEOA3. 1 Publication
VAR_065117
Natural varianti479 – 4791E → K in PEOA3. 2 Publications
VAR_065118
Natural varianti508 – 5081Y → C in MTDPS7. 2 Publications
VAR_043797
Natural varianti634 – 6341N → K.1 Publication
VAR_062269

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei532 – 684153Missing in isoform 3. 1 PublicationVSP_015959Add
BLAST
Alternative sequencei579 – 5824ASQE → VSGL in isoform 2. 2 PublicationsVSP_015960
Alternative sequencei583 – 684102Missing in isoform 2. 2 PublicationsVSP_015961Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF292004 mRNA. Translation: AAK69558.1.
AF292005 mRNA. Translation: AAK69559.1.
BX640829 mRNA. Translation: CAE45905.1.
AL133215 Genomic DNA. Translation: CAI10924.1.
EU543650 Genomic DNA. Translation: ACB21043.1.
AL133215 Genomic DNA. Translation: CAI10925.1.
CH471066 Genomic DNA. Translation: EAW49794.1.
BC013349 mRNA. Translation: AAH13349.1.
CCDSiCCDS53570.1. [Q96RR1-2]
CCDS7506.1. [Q96RR1-1]
RefSeqiNP_001157284.1. NM_001163812.1. [Q96RR1-2]
NP_068602.2. NM_021830.4. [Q96RR1-1]
UniGeneiHs.22678.

Genome annotation databases

EnsembliENST00000311916; ENSP00000309595; ENSG00000107815. [Q96RR1-1]
ENST00000370228; ENSP00000359248; ENSG00000107815. [Q96RR1-2]
GeneIDi56652.
KEGGihsa:56652.
UCSCiuc001ksf.2. human. [Q96RR1-1]
uc001ksg.2. human. [Q96RR1-2]

Polymorphism databases

DMDMi74752111.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AF292004 mRNA. Translation: AAK69558.1 .
AF292005 mRNA. Translation: AAK69559.1 .
BX640829 mRNA. Translation: CAE45905.1 .
AL133215 Genomic DNA. Translation: CAI10924.1 .
EU543650 Genomic DNA. Translation: ACB21043.1 .
AL133215 Genomic DNA. Translation: CAI10925.1 .
CH471066 Genomic DNA. Translation: EAW49794.1 .
BC013349 mRNA. Translation: AAH13349.1 .
CCDSi CCDS53570.1. [Q96RR1-2 ]
CCDS7506.1. [Q96RR1-1 ]
RefSeqi NP_001157284.1. NM_001163812.1. [Q96RR1-2 ]
NP_068602.2. NM_021830.4. [Q96RR1-1 ]
UniGenei Hs.22678.

3D structure databases

ProteinModelPortali Q96RR1.
SMRi Q96RR1. Positions 259-625.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 121166. 9 interactions.
IntActi Q96RR1. 5 interactions.
MINTi MINT-1385725.
STRINGi 9606.ENSP00000309595.

PTM databases

PhosphoSitei Q96RR1.

Polymorphism databases

DMDMi 74752111.

Proteomic databases

MaxQBi Q96RR1.
PaxDbi Q96RR1.
PRIDEi Q96RR1.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000311916 ; ENSP00000309595 ; ENSG00000107815 . [Q96RR1-1 ]
ENST00000370228 ; ENSP00000359248 ; ENSG00000107815 . [Q96RR1-2 ]
GeneIDi 56652.
KEGGi hsa:56652.
UCSCi uc001ksf.2. human. [Q96RR1-1 ]
uc001ksg.2. human. [Q96RR1-2 ]

Organism-specific databases

CTDi 56652.
GeneCardsi GC10P102750.
GeneReviewsi C10orf2.
HGNCi HGNC:1160. C10orf2.
HPAi HPA002532.
MIMi 271245. phenotype.
606075. gene.
607459. phenotype.
609286. phenotype.
neXtProti NX_Q96RR1.
Orphaneti 254892. Autosomal dominant progressive external ophthalmoplegia.
1186. Infantile onset spinocerebellar ataxia.
363534. Mitochondrial DNA depletion syndrome, hepatocerebrorenal form.
70595. Sensory ataxic neuropathy - dysarthria - ophthalmoparesis.
PharmGKBi PA162377675.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG29349.
GeneTreei ENSGT00390000004495.
HOGENOMi HOG000273872.
HOVERGENi HBG059782.
InParanoidi Q96RR1.
KOi K17680.
OMAi GSWEDFQ.
OrthoDBi EOG75MVVT.
PhylomeDBi Q96RR1.
TreeFami TF105994.

Enzyme and pathway databases

Reactomei REACT_200608. Transcriptional activation of mitochondrial biogenesis.

Miscellaneous databases

GeneWikii PEO1.
GenomeRNAii 56652.
NextBioi 62113.
PROi Q96RR1.
SOURCEi Search...

Gene expression databases

Bgeei Q96RR1.
CleanExi HS_C10orf2.
ExpressionAtlasi Q96RR1. baseline and differential.
Genevestigatori Q96RR1.

Family and domain databases

Gene3Di 3.40.50.300. 1 hit.
InterProi IPR007694. DNA_helicase_DnaB-like_C.
IPR027417. P-loop_NTPase.
IPR027032. Twinkle-like.
[Graphical view ]
PANTHERi PTHR12873. PTHR12873. 1 hit.
SUPFAMi SSF52540. SSF52540. 1 hit.
PROSITEi PS51199. SF4_HELICASE. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Human mitochondrial DNA deletions associated with mutations in the gene for Twinkle, a phage T7 gene 4-like protein localized in mitochondria."
    Spelbrink J.N., Li F.-Y., Tiranti V., Nikali K., Yuan Q.-P., Tariq M., Wanrooij S., Garrido N., Comi G., Morandi L., Santoro L., Toscano A., Fabrizi G.-M., Somer H., Croxen R., Beeson D., Poulton J., Suomalainen A.
    , Jacobs H.T., Zeviani M., Larsson C.
    Nat. Genet. 28:223-231(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY, SUBCELLULAR LOCATION, VARIANT ILE-368, VARIANTS PEOA3 LEU-315; PRO-354; THR-359; THR-367; PRO-369; GLN-374; PRO-381; CYS-474 AND PRO-475.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
    Tissue: Fetal brain.
  3. NIEHS SNPs program
    Submitted (MAR-2008) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ARG-348; ILE-368 AND LYS-634.
  4. "The DNA sequence and comparative analysis of human chromosome 10."
    Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L., Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K., Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L., Taylor A., Battles J.
    , Bird C.P., Ainscough R., Almeida J.P., Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D., Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S., Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L., Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S., Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L., Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J., Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M., Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S., Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M., Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A., Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T., Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I., Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T., Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M., Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W., Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H., Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L., Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K., Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T., Doucette-Stamm L., Beck S., Smith D.R., Rogers J.
    Nature 429:375-381(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 132-582 (ISOFORM 2).
    Tissue: Skin.
  7. "TWINKLE has 5' -> 3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein."
    Korhonen J.A., Gaspari M., Falkenberg M.
    J. Biol. Chem. 278:48627-48632(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: PROBABLE FUNCTION.
  8. "Reconstitution of a minimal mtDNA replisome in vitro."
    Korhonen J.A., Pham X.H., Pellegrini M., Falkenberg M.
    EMBO J. 23:2423-2429(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, INTERACTION WITH POLG.
  9. Cited for: TISSUE SPECIFICITY, COREGULATION WITH MRPL43.
  10. "Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA."
    Wanrooij S., Luoma P., van Goethem G., van Broeckhoven C., Suomalainen A., Spelbrink J.N.
    Nucleic Acids Res. 32:3053-3064(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: POSSIBLE MECHANISM OF DELETION FORMATION.
  11. "Clinical and molecular features of adPEO due to mutations in the Twinkle gene."
    Lewis S., Hutchison W., Thyagarajan D., Dahl H.-H.M.
    J. Neurol. Sci. 201:39-44(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PEOA3 LEU-335 AND TYR-369.
  12. Cited for: VARIANT ILE-368.
  13. "Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle."
    Van Goethem G., Loefgren A., Dermaut B., Ceuterick C., Martin J.-J., Van Broeckhoven C.
    Hum. Mutat. 22:175-176(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PEO GLN-334.
  14. "Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)."
    Agostino A., Valletta L., Chinnery P.F., Ferrari G., Carrara F., Taylor R.W., Schaefer A.M., Turnbull D.M., Tiranti V., Zeviani M.
    Neurology 60:1354-1356(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS PEO TRP-303 AND GLN-334.
  15. "A novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia."
    Deschauer M., Kiefer R., Blakely E.L., He L., Zierz S., Turnbull D.M., Taylor R.W.
    Neuromuscul. Disord. 13:568-572(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PEOA3 THR-319.
  16. "Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky."
    Nikali K., Suomalainen A., Saharinen J., Kuokkanen M., Spelbrink J.N., Loennqvist T., Peltonen L.
    Hum. Mol. Genet. 14:2981-2990(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MTDPS7 CYS-508.
  17. "Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism."
    Hudson G., Deschauer M., Busse K., Zierz S., Chinnery P.F.
    Neurology 64:371-373(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT SANDO GLU-319.
  18. "Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay."
    Naiemi M., Bannwarth S., Procaccio V., Pouget J., Desnuelle C., Pellissier J.-F., Roetig A., Munnich A., Calvas P., Richelme C., Jonveaux P., Castelnovo G., Simon M., Clanet M., Wallace D., Paquis-Flucklinger V.
    Eur. J. Hum. Genet. 14:917-922(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PEOA3 GLN-374, VARIANT ILE-368.
  19. "Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion."
    Sarzi E., Goffart S., Serre V., Chretien D., Slama A., Munnich A., Spelbrink J.N., Roetig A.
    Ann. Neurol. 62:579-587(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MTDPS7 ILE-457, CHARACTERIZATION OF VARIANT MTDPS7 ILE-457.
  20. "Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion."
    Hakonen A.H., Isohanni P., Paetau A., Herva R., Suomalainen A., Lonnqvist T.
    Brain 130:3032-3040(2007) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANTS MTDPS7 THR-318 AND CYS-508.
  21. Cited for: VARIANT PEOA3 PRO-357.
  22. Cited for: VARIANTS PEOA3 TRP-303; SER-315; PRO-334; ASN-426; SER-474; ILE-478 AND LYS-479.
  23. "Phenotype and clinical course in a family with a new de novo Twinkle gene mutation."
    Jeppesen T.D., Schwartz M., Colding-Jorgensen E., Krag T., Hauerslev S., Vissing J.
    Neuromuscul. Disord. 18:306-309(2008) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PEOA3 LEU-370.
  24. "Finding twinkle in the eyes of a 71-year-old lady: a case report and review of the genotypic and phenotypic spectrum of TWINKLE-related dominant disease."
    Van Hove J.L., Cunningham V., Rice C., Ringel S.P., Zhang Q., Chou P.C., Truong C.K., Wong L.J.
    Am. J. Med. Genet. A 149:861-867(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PEOA3 GLN-303.
  25. "Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia."
    Negro R., Zoccolella S., Dell'aglio R., Amati A., Artuso L., Bisceglia L., Lavolpe V., Papa S., Serlenga L., Petruzzella V.
    Neuromuscul. Disord. 19:423-426(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PEOA3 TRP-303.
  26. "Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure."
    Bohlega S., Van Goethem G., Al Semari A., Lofgren A., Al Hamed M., Van Broeckhoven C., Kambouris M.
    Neuromuscul. Disord. 19:845-848(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MTDPS7 GLY-360.
  27. Cited for: VARIANTS PEOA3 GLN-303; TRP-303; GLN-334; PRO-354; PRO-357; THR-359; PRO-362; LEU-363; CYS-370; GLN-374; PRO-381; HIS-458; PRO-460; ASP-475 AND LYS-479.
  28. "TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review."
    Martin-Negrier M.L., Sole G., Jardel C., Vital C., Ferrer X., Vital A.
    Eur. J. Neurol. 18:436-441(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT PEOA3 GLN-374.
  29. "Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing."
    Dundar H., Ozgul R.K., Yalnizoglu D., Erdem S., Oguz K.K., Tuncel D., Temucin C.M., Dursun A.
    Pediatr. Neurol. 46:172-177(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MTDPS7 VAL-456.

Entry informationi

Entry nameiPEO1_HUMAN
AccessioniPrimary (citable) accession number: Q96RR1
Secondary accession number(s): B2CQL2
, Q6MZX2, Q6PJP5, Q96RR0
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: December 1, 2001
Last modified: October 29, 2014
This is version 117 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 10
    Human chromosome 10: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3