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Q96RR1 (PEO1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 114. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:PEO1
Synonyms:C10orf2
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length684 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

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. Ref.8 Ref.9

Catalytic activity

ATP + H2O = ADP + phosphate.

Subunit structure

Forms multimers in vitro, including hexamers. Interacts with POLG in vitro. Ref.9

Subcellular location

Mitochondrion matrixmitochondrion nucleoid. 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. Ref.1

Tissue specificity

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. Ref.1 Ref.10

Involvement in disease

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.1 Ref.12 Ref.16 Ref.19 Ref.22 Ref.23 Ref.24 Ref.25 Ref.26 Ref.28 Ref.29

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.18

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.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.17 Ref.20 Ref.21 Ref.27 Ref.30

Sequence similarities

Contains 1 SF4 helicase domain.

Alternative products

This entry describes 3 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q96RR1-1)

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.
Isoform 2 (identifier: Q96RR1-2)

Also known as: Twinky;

The sequence of this isoform differs from the canonical sequence as follows:
     579-582: ASQE → VSGL
     583-684: Missing.
Isoform 3 (identifier: Q96RR1-3)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 3131Mitochondrion Potential
Chain32 – 684653Twinkle protein, mitochondrial
PRO_0000042640

Regions

Domain384 – 635252SF4 helicase
Nucleotide binding415 – 4228ATP By similarity

Natural variations

Alternative sequence532 – 684153Missing in isoform 3.
VSP_015959
Alternative sequence579 – 5824ASQE → VSGL in isoform 2.
VSP_015960
Alternative sequence583 – 684102Missing in isoform 2.
VSP_015961
Natural variant3031R → Q in PEOA3. Ref.25 Ref.28
VAR_065102
Natural variant3031R → W in PEOA3; also detected in a case showing digenic inheritance. Ref.15 Ref.23 Ref.26 Ref.28
VAR_023647
Natural variant3151W → L in PEOA3. Ref.1
VAR_023648
Natural variant3151W → S in PEOA3. Ref.23
VAR_065103
Natural variant3181A → T in MTDPS7. Ref.21
VAR_065104
Natural variant3191K → E in SANDO; the phenotype highly overlaps with PEOA3. Ref.18
VAR_023649
Natural variant3191K → T in PEOA3. Ref.16
VAR_023650
Natural variant3341R → P in PEOA3. Ref.23
VAR_065105
Natural variant3341R → Q in PEO; sporadic case; the patient also carries the S-848 mutation in the POLG gene suggesting digenic inheritance. Ref.14 Ref.15 Ref.28
Corresponds to variant rs28937887 [ dbSNP | Ensembl ].
VAR_023651
Natural variant3351P → L in PEOA3. Ref.12
VAR_023652
Natural variant3481G → R. Ref.4
VAR_062268
Natural variant3541R → P in PEOA3. Ref.1 Ref.28
VAR_023653
Natural variant3571R → P in PEOA3. Ref.22 Ref.28
VAR_065106
Natural variant3591A → T in PEOA3. Ref.1 Ref.28
VAR_023654
Natural variant3601L → G in MTDPS7; patients manifest multi-organ failure; requires 2 nucleotide substitutions. Ref.27
VAR_065107
Natural variant3621A → P in PEOA3. Ref.28
VAR_065108
Natural variant3631W → L in PEOA3. Ref.28
VAR_065109
Natural variant3671I → T in PEOA3. Ref.1
VAR_023655
Natural variant3681V → I. Ref.1 Ref.4 Ref.13 Ref.19
Corresponds to variant rs17113613 [ dbSNP | Ensembl ].
VAR_023656
Natural variant3691S → P in PEOA3. Ref.1
VAR_023657
Natural variant3691S → Y in PEOA3. Ref.12
VAR_023658
Natural variant3701F → C in PEOA3. Ref.28
VAR_065110
Natural variant3701F → L in PEOA3. Ref.24
VAR_065111
Natural variant3741R → Q in PEOA3. Ref.1 Ref.19 Ref.28 Ref.29
VAR_023659
Natural variant3811L → P in PEOA3. Ref.1 Ref.28
VAR_023660
Natural variant4261S → N in PEOA3. Ref.23
VAR_065112
Natural variant4271E → G.
Corresponds to variant rs11542126 [ dbSNP | Ensembl ].
VAR_051267
Natural variant4561L → V in MTDPS7; infantile spinocerebellar ataxia phenotype. Ref.30
VAR_067722
Natural variant4571T → I in MTDPS7; affects helicase activity. Ref.20
VAR_039045
Natural variant4581Q → H in PEOA3. Ref.28
VAR_065113
Natural variant4601A → P in PEOA3. Ref.28
VAR_065114
Natural variant4741W → C in PEOA3. Ref.1
VAR_023661
Natural variant4741W → S in PEOA3. Ref.23
VAR_065115
Natural variant4751A → D in PEOA3. Ref.28
VAR_065116
Natural variant4751A → P in PEOA3. Ref.1
VAR_023662
Natural variant4781F → I in PEOA3. Ref.23
VAR_065117
Natural variant4791E → K in PEOA3. Ref.23 Ref.28
VAR_065118
Natural variant5081Y → C in MTDPS7. Ref.17 Ref.21
VAR_043797
Natural variant6341N → K. Ref.4
VAR_062269

Experimental info

Sequence conflict3511N → D in CAE45905. Ref.3

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified December 1, 2001. Version 1.
Checksum: 58186043888234DA

FASTA68477,154
        10         20         30         40         50         60 
MWVLLRSGYP LRILLPLRGE WMGRRGLPRN LAPGPPRRRY RKETLQALDM PVLPVTATEI 

        70         80         90        100        110        120 
RQYLRGHGIP FQDGHSCLRA LSPFAESSQL KGQTGVTTSF SLFIDKTTGH FLCMTSLAEG 

       130        140        150        160        170        180 
SWEDFQASVE GRGDGAREGF LLSKAPEFED SEEVRRIWNR AIPLWELPDQ EEVQLADTMF 

       190        200        210        220        230        240 
GLTKVTDDTL KRFSVRYLRP ARSLVFPWFS PGGSGLRGLK LLEAKCQGDG VSYEETTIPR 

       250        260        270        280        290        300 
PSAYHNLFGL PLISRRDAEV VLTSRELDSL ALNQSTGLPT LTLPRGTTCL PPALLPYLEQ 

       310        320        330        340        350        360 
FRRIVFWLGD DLRSWEAAKL FARKLNPKRC FLVRPGDQQP RPLEALNGGF NLSRILRTAL 

       370        380        390        400        410        420 
PAWHKSIVSF RQLREEVLGE LSNVEQAAGL RWSRFPDLNR ILKGHRKGEL TVFTGPTGSG 

       430        440        450        460        470        480 
KTTFISEYAL DLCSQGVNTL WGSFEISNVR LARVMLTQFA EGRLEDQLDK YDHWADRFED 

       490        500        510        520        530        540 
LPLYFMTFHG QQSIRTVIDT MQHAVYVYDI CHVIIDNLQF MMGHEQLSTD RIAAQDYIIG 

       550        560        570        580        590        600 
VFRKFATDNN CHVTLVIHPR KEDDDKELQT ASIFGSAKAS QEADNVLILQ DRKLVTGPGK 

       610        620        630        640        650        660 
RYLQVSKNRF DGDVGVFPLE FNKNSLTFSI PPKNKARLKK IKDDTGPVAK KPSSGKKGAT 

       670        680 
TQNSEICSGQ APTPDQPDTS KRSK 

« Hide

Isoform 2 (Twinky) [UniParc].

Checksum: 8A6A46BDCD5B8C3F
Show »

FASTA58266,016
Isoform 3 [UniParc].

Checksum: B7B4246EC5B6502A
Show »

FASTA53160,400

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Erratum
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. expand/collapse author list , Jacobs H.T., Zeviani M., Larsson C.
Nat. Genet. 29:100-100(2001)
[3]"The full-ORF clone resource of the German cDNA consortium."
Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U., Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H., Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K., Ottenwaelder B., Poustka A., Wiemann S., Schupp I.
BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
Tissue: Fetal brain.
[4]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.
[5]"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. expand/collapse author list , 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].
[6]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[7]"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.
[8]"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.
[9]"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.
[10]"Twinkle helicase is essential for mtDNA maintenance and regulates mtDNA copy number."
Tyynismaa H., Sembongi H., Bokori-Brown M., Granycome C., Ashley N., Poulton J., Jalanko A., Spelbrink J.N., Holt I.J., Suomalainen A.
Hum. Mol. Genet. 13:3219-3227(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: TISSUE SPECIFICITY, COREGULATION WITH MRPL43.
[11]"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.
[12]"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.
[13]"The V368I mutation in Twinkle does not segregate with AdPEO."
Arenas J., Briem E., Dahl H.-H.M., Hutchison W., Lewis S., Martin M.A., Spelbrink H., Tiranti V., Jacobs H., Zeviani M.
Ann. Neurol. 53:278-278(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT ILE-368.
[14]"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.
[15]"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.
[16]"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.
[17]"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.
[18]"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.
[19]"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.
[20]"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.
[21]"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.
[22]"Mild ocular myopathy associated with a novel mutation in mitochondrial twinkle helicase."
Rivera H., Blazquez A., Carretero J., Alvarez-Cermeno J.C., Campos Y., Cabello A., Gonzalez-Vioque E., Borstein B., Garesse R., Arenas J., Martin M.A.
Neuromuscul. Disord. 17:677-680(2007) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT PEOA3 PRO-357.
[23]"Novel Twinkle (PEO1) gene mutations in Mendelian progressive external ophthalmoplegia."
Virgilio R., Ronchi D., Hadjigeorgiou G.M., Bordoni A., Saladino F., Moggio M., Adobbati L., Kafetsouli D., Tsironi E., Previtali S., Papadimitriou A., Bresolin N., Comi G.P.
J. Neurol. 255:1384-1391(2008) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS PEOA3 TRP-303; SER-315; PRO-334; ASN-426; SER-474; ILE-478 AND LYS-479.
[24]"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.
[25]"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.
[26]"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.
[27]"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.
[28]"The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO."
Fratter C., Gorman G.S., Stewart J.D., Buddles M., Smith C., Evans J., Seller A., Poulton J., Roberts M., Hanna M.G., Rahman S., Omer S.E., Klopstock T., Schoser B., Kornblum C., Czermin B., Lecky B., Blakely E.L. expand/collapse author list , Craig K., Chinnery P.F., Turnbull D.M., Horvath R., Taylor R.W.
Neurology 74:1619-1626(2010) [PubMed] [Europe PMC] [Abstract]
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.
[29]"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.
[30]"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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
CCDSCCDS53570.1. [Q96RR1-2]
CCDS7506.1. [Q96RR1-1]
RefSeqNP_001157284.1. NM_001163812.1. [Q96RR1-2]
NP_068602.2. NM_021830.4. [Q96RR1-1]
UniGeneHs.22678.

3D structure databases

ProteinModelPortalQ96RR1.
SMRQ96RR1. Positions 259-625.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid121166. 6 interactions.
IntActQ96RR1. 5 interactions.
MINTMINT-1385725.
STRING9606.ENSP00000309595.

PTM databases

PhosphoSiteQ96RR1.

Polymorphism databases

DMDM74752111.

Proteomic databases

MaxQBQ96RR1.
PaxDbQ96RR1.
PRIDEQ96RR1.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000311916; ENSP00000309595; ENSG00000107815. [Q96RR1-1]
ENST00000370228; ENSP00000359248; ENSG00000107815. [Q96RR1-2]
GeneID56652.
KEGGhsa:56652.
UCSCuc001ksf.2. human. [Q96RR1-1]
uc001ksg.2. human. [Q96RR1-2]

Organism-specific databases

CTD56652.
GeneCardsGC10P102738.
GeneReviewsC10orf2.
HGNCHGNC:1160. C10orf2.
HPAHPA002532.
MIM271245. phenotype.
606075. gene.
607459. phenotype.
609286. phenotype.
neXtProtNX_Q96RR1.
Orphanet254892. Autosomal dominant progressive external ophthalmoplegia.
1186. Infantile onset spinocerebellar ataxia.
363534. Mitochondrial DNA depletion syndrome, hepatocerebrorenal form.
70595. Sensory ataxic neuropathy - dysarthria - ophthalmoparesis.
PharmGKBPA162377675.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG29349.
HOGENOMHOG000273872.
HOVERGENHBG059782.
InParanoidQ96RR1.
KOK17680.
OMAGSWEDFQ.
OrthoDBEOG75MVVT.
PhylomeDBQ96RR1.
TreeFamTF105994.

Enzyme and pathway databases

ReactomeREACT_200751. Organelle biogenesis and maintenance.

Gene expression databases

ArrayExpressQ96RR1.
BgeeQ96RR1.
CleanExHS_C10orf2.
GenevestigatorQ96RR1.

Family and domain databases

Gene3D3.40.50.300. 1 hit.
InterProIPR007694. DNA_helicase_DnaB-like_C.
IPR027417. P-loop_NTPase.
IPR027032. Twinkle-like.
[Graphical view]
PANTHERPTHR12873. PTHR12873. 1 hit.
SUPFAMSSF52540. SSF52540. 1 hit.
PROSITEPS51199. SF4_HELICASE. 1 hit.
[Graphical view]
ProtoNetSearch...

Other

GeneWikiPEO1.
GenomeRNAi56652.
NextBio62113.
PROQ96RR1.
SOURCESearch...

Entry information

Entry namePEO1_HUMAN
AccessionPrimary (citable) accession number: Q96RR1
Secondary accession number(s): B2CQL2 expand/collapse secondary AC list , Q6MZX2, Q6PJP5, Q96RR0
Entry history
Integrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: December 1, 2001
Last modified: July 9, 2014
This is version 114 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 10

Human chromosome 10: entries, gene names and cross-references to MIM