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Q8CIW5

- PEO1_MOUSE

UniProt

Q8CIW5 - PEO1_MOUSE

Protein

Twinkle protein, mitochondrial

Gene

Peo1

Organism
Mus musculus (Mouse)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 93 (01 Oct 2014)
      Sequence version 1 (01 Mar 2003)
      Previous versions | rss
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    Functioni

    Involved in mitochondrial DNA (mtDNA) metabolism. Could function as an adenine nucleotide-dependent DNA helicase. Function infered to be critical for lifetime maintenance of mtDNA integrity. 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 bindingi416 – 4238ATPPROSITE-ProRule annotation

    GO - Molecular functioni

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

    GO - Biological processi

    1. DNA unwinding involved in DNA replication Source: MGI
    2. mitochondrial DNA replication Source: UniProtKB
    3. protein hexamerization Source: Ensembl
    4. protein homooligomerization Source: Ensembl
    5. transcription from mitochondrial promoter Source: Ensembl

    Keywords - Molecular functioni

    Helicase, Hydrolase

    Keywords - Biological processi

    DNA replication

    Keywords - Ligandi

    ATP-binding, Nucleotide-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Twinkle protein, mitochondrial (EC:3.6.4.12)
    Alternative name(s):
    Progressive external ophthalmoplegia 1 protein homolog
    T7 gp4-like protein with intramitochondrial nucleoid localization
    T7-like mitochondrial DNA helicase
    Gene namesi
    Name:Peo1
    OrganismiMus musculus (Mouse)
    Taxonomic identifieri10090 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus
    ProteomesiUP000000589: Chromosome 19

    Organism-specific databases

    MGIiMGI:2137410. Peo1.

    Subcellular locationi

    Mitochondrion matrixmitochondrion nucleoid By similarity
    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.By similarity

    GO - Cellular componenti

    1. mitochondrial nucleoid Source: UniProtKB
    2. mitochondrion Source: MGI

    Keywords - Cellular componenti

    Mitochondrion, Mitochondrion nucleoid

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transit peptidei1 – 3131MitochondrionBy similarityAdd
    BLAST
    Chaini32 – 685654Twinkle protein, mitochondrialPRO_0000042641Add
    BLAST

    Proteomic databases

    PaxDbiQ8CIW5.
    PRIDEiQ8CIW5.

    PTM databases

    PhosphoSiteiQ8CIW5.

    Expressioni

    Tissue specificityi

    Ubiquitous with the highest levels in the liver, heart and kidneys. The skeletal muscle, brain and testis showed lower but detectable expression. Expression is coregulated with MRPL43.1 Publication

    Gene expression databases

    BgeeiQ8CIW5.
    CleanExiMM_PEO1.
    GenevestigatoriQ8CIW5.

    Interactioni

    Subunit structurei

    Forms multimers in vitro, including hexamers.By similarity

    Structurei

    3D structure databases

    ProteinModelPortaliQ8CIW5.
    SMRiQ8CIW5. Positions 260-626.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini385 – 636252SF4 helicasePROSITE-ProRule annotationAdd
    BLAST

    Coiled coil

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Coiled coili454 – 48229Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Contains 1 SF4 helicase domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Coiled coil, Transit peptide

    Phylogenomic databases

    eggNOGiNOG29349.
    GeneTreeiENSGT00390000004495.
    HOGENOMiHOG000273872.
    HOVERGENiHBG059782.
    InParanoidiQ8CIW5.
    KOiK17680.
    OMAiGSWEDFQ.
    OrthoDBiEOG75MVVT.
    PhylomeDBiQ8CIW5.
    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 (2)i

    Sequence statusi: Complete.

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

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8CIW5-1) [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

    MWLLLRRAYP LRILLPLRGE WVGRRGLPRS LAPGPPRRRY RKEALPALEM    50
    PVSPVTTTEI RQYLRAHGIP FQDGHSCLRA PSPFVVSSDI KNEKKDAPTS 100
    FCLFIDKTTG HFLCMTSLAE GSWEDLQASV EGRGDGAKEG VLLREGPEAE 150
    VREEVLRIWN RAIPLWELPD PEEAQLARVM FGLTKVTDDT LRRFSVRYLR 200
    SARSLVFPWF TPGSSGLRGL KLLGAEGQEN GVQYVETTIP RPGVYHNLFG 250
    LPLISRRDTE VVVTSRELDS LALSQSTGLP TLSLPRGTVC LPPALLPYLE 300
    QFRRIVFWLG DDLRSWEAAK LFARKLNPKR CSLVRPGNQQ PRPLEALNQG 350
    LSLPRILRTA LPAWHKSIVS FRQLREEVLG ELSNVEQAAG VRWSRFPDLN 400
    RLLKGHRKGE LTVFTGPTGS GKTTFISEYA LDLCTQGVNT LWGSFEISNV 450
    RLARVMLTQF AVTRLEEQLD KYEEWADRFE DLPLYFMTFH GQQSIRSVID 500
    TMQHAVYVYD VCHVVIDNLQ FMMGHEQLSS DRIAAQDYIV GAFRKFATDN 550
    SCHVTLVIHP RKEDDDKELQ TASIFGSAKA SQEADNVLIL QDRKLVTGPG 600
    KRYLQVSKNR FDGDVGVFPL EFNKNSLTFS IPPKSKARLK KIKDDNGLVA 650
    KKSSSGKKGA AHQNPEICLG QDPSPAQPDT SKSSG 685
    Length:685
    Mass (Da):76,993
    Last modified:March 1, 2003 - v1
    Checksum:iF9CF69BDC4DCF838
    GO
    Isoform 2 (identifier: Q8CIW5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-398: Missing.
         399-415: LNRLLKGHRKGELTVFT → MCCQTLLLTQSFVRPPI

    Show »
    Length:287
    Mass (Da):32,016
    Checksum:iE636DE51D48B31D3
    GO

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 398398Missing in isoform 2. 1 PublicationVSP_015962Add
    BLAST
    Alternative sequencei399 – 41517LNRLL…LTVFT → MCCQTLLLTQSFVRPPI in isoform 2. 1 PublicationVSP_015963Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY059385 mRNA. Translation: AAL27647.1.
    AK146244 mRNA. Translation: BAE27008.1.
    BC034909 mRNA. Translation: AAH34909.1.
    BC071195 mRNA. Translation: AAH71195.1.
    CCDSiCCDS29854.1. [Q8CIW5-1]
    RefSeqiNP_722491.2. NM_153796.3. [Q8CIW5-1]
    UniGeneiMm.105585.

    Genome annotation databases

    EnsembliENSMUST00000026227; ENSMUSP00000026227; ENSMUSG00000025209. [Q8CIW5-1]
    GeneIDi226153.
    KEGGimmu:226153.
    UCSCiuc008hqh.1. mouse. [Q8CIW5-2]
    uc008hqi.1. mouse. [Q8CIW5-1]

    Keywords - Coding sequence diversityi

    Alternative splicing

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY059385 mRNA. Translation: AAL27647.1 .
    AK146244 mRNA. Translation: BAE27008.1 .
    BC034909 mRNA. Translation: AAH34909.1 .
    BC071195 mRNA. Translation: AAH71195.1 .
    CCDSi CCDS29854.1. [Q8CIW5-1 ]
    RefSeqi NP_722491.2. NM_153796.3. [Q8CIW5-1 ]
    UniGenei Mm.105585.

    3D structure databases

    ProteinModelPortali Q8CIW5.
    SMRi Q8CIW5. Positions 260-626.
    ModBasei Search...
    MobiDBi Search...

    PTM databases

    PhosphoSitei Q8CIW5.

    Proteomic databases

    PaxDbi Q8CIW5.
    PRIDEi Q8CIW5.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENSMUST00000026227 ; ENSMUSP00000026227 ; ENSMUSG00000025209 . [Q8CIW5-1 ]
    GeneIDi 226153.
    KEGGi mmu:226153.
    UCSCi uc008hqh.1. mouse. [Q8CIW5-2 ]
    uc008hqi.1. mouse. [Q8CIW5-1 ]

    Organism-specific databases

    CTDi 226153.
    MGIi MGI:2137410. Peo1.

    Phylogenomic databases

    eggNOGi NOG29349.
    GeneTreei ENSGT00390000004495.
    HOGENOMi HOG000273872.
    HOVERGENi HBG059782.
    InParanoidi Q8CIW5.
    KOi K17680.
    OMAi GSWEDFQ.
    OrthoDBi EOG75MVVT.
    PhylomeDBi Q8CIW5.
    TreeFami TF105994.

    Miscellaneous databases

    NextBioi 378032.
    PROi Q8CIW5.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q8CIW5.
    CleanExi MM_PEO1.
    Genevestigatori Q8CIW5.

    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. "Cloning of full length Mus musculus Twinkle cDNA."
      Spelbrink J.N.
      Submitted (OCT-2001) to the EMBL/GenBank/DDBJ databases
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Fibroblast.
    2. "The transcriptional landscape of the mammalian genome."
      Carninci P., Kasukawa T., Katayama S., Gough J., Frith M.C., Maeda N., Oyama R., Ravasi T., Lenhard B., Wells C., Kodzius R., Shimokawa K., Bajic V.B., Brenner S.E., Batalov S., Forrest A.R., Zavolan M., Davis M.J.
      , Wilming L.G., Aidinis V., Allen J.E., Ambesi-Impiombato A., Apweiler R., Aturaliya R.N., Bailey T.L., Bansal M., Baxter L., Beisel K.W., Bersano T., Bono H., Chalk A.M., Chiu K.P., Choudhary V., Christoffels A., Clutterbuck D.R., Crowe M.L., Dalla E., Dalrymple B.P., de Bono B., Della Gatta G., di Bernardo D., Down T., Engstrom P., Fagiolini M., Faulkner G., Fletcher C.F., Fukushima T., Furuno M., Futaki S., Gariboldi M., Georgii-Hemming P., Gingeras T.R., Gojobori T., Green R.E., Gustincich S., Harbers M., Hayashi Y., Hensch T.K., Hirokawa N., Hill D., Huminiecki L., Iacono M., Ikeo K., Iwama A., Ishikawa T., Jakt M., Kanapin A., Katoh M., Kawasawa Y., Kelso J., Kitamura H., Kitano H., Kollias G., Krishnan S.P., Kruger A., Kummerfeld S.K., Kurochkin I.V., Lareau L.F., Lazarevic D., Lipovich L., Liu J., Liuni S., McWilliam S., Madan Babu M., Madera M., Marchionni L., Matsuda H., Matsuzawa S., Miki H., Mignone F., Miyake S., Morris K., Mottagui-Tabar S., Mulder N., Nakano N., Nakauchi H., Ng P., Nilsson R., Nishiguchi S., Nishikawa S., Nori F., Ohara O., Okazaki Y., Orlando V., Pang K.C., Pavan W.J., Pavesi G., Pesole G., Petrovsky N., Piazza S., Reed J., Reid J.F., Ring B.Z., Ringwald M., Rost B., Ruan Y., Salzberg S.L., Sandelin A., Schneider C., Schoenbach C., Sekiguchi K., Semple C.A., Seno S., Sessa L., Sheng Y., Shibata Y., Shimada H., Shimada K., Silva D., Sinclair B., Sperling S., Stupka E., Sugiura K., Sultana R., Takenaka Y., Taki K., Tammoja K., Tan S.L., Tang S., Taylor M.S., Tegner J., Teichmann S.A., Ueda H.R., van Nimwegen E., Verardo R., Wei C.L., Yagi K., Yamanishi H., Zabarovsky E., Zhu S., Zimmer A., Hide W., Bult C., Grimmond S.M., Teasdale R.D., Liu E.T., Brusic V., Quackenbush J., Wahlestedt C., Mattick J.S., Hume D.A., Kai C., Sasaki D., Tomaru Y., Fukuda S., Kanamori-Katayama M., Suzuki M., Aoki J., Arakawa T., Iida J., Imamura K., Itoh M., Kato T., Kawaji H., Kawagashira N., Kawashima T., Kojima M., Kondo S., Konno H., Nakano K., Ninomiya N., Nishio T., Okada M., Plessy C., Shibata K., Shiraki T., Suzuki S., Tagami M., Waki K., Watahiki A., Okamura-Oho Y., Suzuki H., Kawai J., Hayashizaki Y.
      Science 309:1559-1563(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
      Strain: BALB/c.
    3. "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] (ISOFORMS 1 AND 2).
      Strain: FVB/N.
      Tissue: Liver.
    4. Cited for: TISSUE SPECIFICITY, COREGULATION WITH MRPL43, FUNCTION.

    Entry informationi

    Entry nameiPEO1_MOUSE
    AccessioniPrimary (citable) accession number: Q8CIW5
    Secondary accession number(s): Q8K1Z1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: October 25, 2005
    Last sequence update: March 1, 2003
    Last modified: October 1, 2014
    This is version 93 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. MGD cross-references
      Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
    2. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3