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Q8CIW5 (PEO1_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 92. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (2) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·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 homolog
T7 gp4-like protein with intramitochondrial nucleoid localization
T7-like mitochondrial DNA helicase
Gene names
Name:Peo1
OrganismMus musculus (Mouse) [Reference proteome]
Taxonomic identifier10090 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresGliresRodentiaSciurognathiMuroideaMuridaeMurinaeMusMus

Protein attributes

Sequence length685 AA.
Sequence statusComplete.
Sequence processingThe displayed sequence is further processed into a mature form.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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. Ref.4

Catalytic activity

ATP + H2O = ADP + phosphate.

Subunit structure

Forms multimers in vitro, including hexamers By similarity.

Subcellular location

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.

Tissue specificity

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. Ref.4

Sequence similarities

Contains 1 SF4 helicase domain.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: Q8CIW5-1)

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: Q8CIW5-2)

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

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Transit peptide1 – 3131Mitochondrion By similarity
Chain32 – 685654Twinkle protein, mitochondrial
PRO_0000042641

Regions

Domain385 – 636252SF4 helicase
Nucleotide binding416 – 4238ATP By similarity
Coiled coil454 – 48229 Potential

Natural variations

Alternative sequence1 – 398398Missing in isoform 2.
VSP_015962
Alternative sequence399 – 41517LNRLL…LTVFT → MCCQTLLLTQSFVRPPI in isoform 2.
VSP_015963

Sequences

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

Last modified March 1, 2003. Version 1.
Checksum: F9CF69BDC4DCF838

FASTA68576,993
        10         20         30         40         50         60 
MWLLLRRAYP LRILLPLRGE WVGRRGLPRS LAPGPPRRRY RKEALPALEM PVSPVTTTEI 

        70         80         90        100        110        120 
RQYLRAHGIP FQDGHSCLRA PSPFVVSSDI KNEKKDAPTS FCLFIDKTTG HFLCMTSLAE 

       130        140        150        160        170        180 
GSWEDLQASV EGRGDGAKEG VLLREGPEAE VREEVLRIWN RAIPLWELPD PEEAQLARVM 

       190        200        210        220        230        240 
FGLTKVTDDT LRRFSVRYLR SARSLVFPWF TPGSSGLRGL KLLGAEGQEN GVQYVETTIP 

       250        260        270        280        290        300 
RPGVYHNLFG LPLISRRDTE VVVTSRELDS LALSQSTGLP TLSLPRGTVC LPPALLPYLE 

       310        320        330        340        350        360 
QFRRIVFWLG DDLRSWEAAK LFARKLNPKR CSLVRPGNQQ PRPLEALNQG LSLPRILRTA 

       370        380        390        400        410        420 
LPAWHKSIVS FRQLREEVLG ELSNVEQAAG VRWSRFPDLN RLLKGHRKGE LTVFTGPTGS 

       430        440        450        460        470        480 
GKTTFISEYA LDLCTQGVNT LWGSFEISNV RLARVMLTQF AVTRLEEQLD KYEEWADRFE 

       490        500        510        520        530        540 
DLPLYFMTFH GQQSIRSVID TMQHAVYVYD VCHVVIDNLQ FMMGHEQLSS DRIAAQDYIV 

       550        560        570        580        590        600 
GAFRKFATDN SCHVTLVIHP RKEDDDKELQ TASIFGSAKA SQEADNVLIL QDRKLVTGPG 

       610        620        630        640        650        660 
KRYLQVSKNR FDGDVGVFPL EFNKNSLTFS IPPKSKARLK KIKDDNGLVA KKSSSGKKGA 

       670        680 
AHQNPEICLG QDPSPAQPDT SKSSG 

« Hide

Isoform 2 [UniParc].

Checksum: E636DE51D48B31D3
Show »

FASTA28732,016

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]"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, FUNCTION.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY059385 mRNA. Translation: AAL27647.1.
AK146244 mRNA. Translation: BAE27008.1.
BC034909 mRNA. Translation: AAH34909.1.
BC071195 mRNA. Translation: AAH71195.1.
CCDSCCDS29854.1. [Q8CIW5-1]
RefSeqNP_722491.2. NM_153796.3. [Q8CIW5-1]
UniGeneMm.105585.

3D structure databases

ProteinModelPortalQ8CIW5.
SMRQ8CIW5. Positions 260-626.
ModBaseSearch...
MobiDBSearch...

PTM databases

PhosphoSiteQ8CIW5.

Proteomic databases

PaxDbQ8CIW5.
PRIDEQ8CIW5.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENSMUST00000026227; ENSMUSP00000026227; ENSMUSG00000025209. [Q8CIW5-1]
GeneID226153.
KEGGmmu:226153.
UCSCuc008hqh.1. mouse. [Q8CIW5-2]
uc008hqi.1. mouse. [Q8CIW5-1]

Organism-specific databases

CTD226153.
MGIMGI:2137410. Peo1.

Phylogenomic databases

eggNOGNOG29349.
GeneTreeENSGT00390000004495.
HOGENOMHOG000273872.
HOVERGENHBG059782.
InParanoidQ8CIW5.
KOK17680.
OMAGSWEDFQ.
OrthoDBEOG75MVVT.
PhylomeDBQ8CIW5.
TreeFamTF105994.

Gene expression databases

BgeeQ8CIW5.
CleanExMM_PEO1.
GenevestigatorQ8CIW5.

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

NextBio378032.
PROQ8CIW5.
SOURCESearch...

Entry information

Entry namePEO1_MOUSE
AccessionPrimary (citable) accession number: Q8CIW5
Secondary accession number(s): Q8K1Z1
Entry history
Integrated into UniProtKB/Swiss-Prot: October 25, 2005
Last sequence update: March 1, 2003
Last modified: July 9, 2014
This is version 92 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program

Relevant documents

SIMILARITY comments

Index of protein domains and families

MGD cross-references

Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot