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Q96RR1

- PEO1_HUMAN

UniProt

Q96RR1 - PEO1_HUMAN

Protein

Twinkle protein, mitochondrial

Gene

PEO1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 116 (01 Oct 2014)
      Sequence version 1 (01 Dec 2001)
      Previous versions | rss
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    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

    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

    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

    ArrayExpressiQ96RR1.
    BgeeiQ96RR1.
    CleanExiHS_C10orf2.
    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. 6 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.
    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: Q96RR1-1) [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

    MWVLLRSGYP LRILLPLRGE WMGRRGLPRN LAPGPPRRRY RKETLQALDM    50
    PVLPVTATEI RQYLRGHGIP FQDGHSCLRA LSPFAESSQL KGQTGVTTSF 100
    SLFIDKTTGH FLCMTSLAEG SWEDFQASVE GRGDGAREGF LLSKAPEFED 150
    SEEVRRIWNR AIPLWELPDQ EEVQLADTMF GLTKVTDDTL KRFSVRYLRP 200
    ARSLVFPWFS PGGSGLRGLK LLEAKCQGDG VSYEETTIPR PSAYHNLFGL 250
    PLISRRDAEV VLTSRELDSL ALNQSTGLPT LTLPRGTTCL PPALLPYLEQ 300
    FRRIVFWLGD DLRSWEAAKL FARKLNPKRC FLVRPGDQQP RPLEALNGGF 350
    NLSRILRTAL PAWHKSIVSF RQLREEVLGE LSNVEQAAGL RWSRFPDLNR 400
    ILKGHRKGEL TVFTGPTGSG KTTFISEYAL DLCSQGVNTL WGSFEISNVR 450
    LARVMLTQFA EGRLEDQLDK YDHWADRFED LPLYFMTFHG QQSIRTVIDT 500
    MQHAVYVYDI CHVIIDNLQF MMGHEQLSTD RIAAQDYIIG VFRKFATDNN 550
    CHVTLVIHPR KEDDDKELQT ASIFGSAKAS QEADNVLILQ DRKLVTGPGK 600
    RYLQVSKNRF DGDVGVFPLE FNKNSLTFSI PPKNKARLKK IKDDTGPVAK 650
    KPSSGKKGAT TQNSEICSGQ APTPDQPDTS KRSK 684
    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. 6 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 GC10P102738.
    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.
    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

    ArrayExpressi Q96RR1.
    Bgeei Q96RR1.
    CleanExi HS_C10orf2.
    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

    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 1, 2014
    This is version 116 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