Q8CIW5 (PEO1_MOUSE) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:

Peo1

Organism

Mus musculus (Mouse) [Reference proteome]

Taxonomic identifier

10090 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Glires › Rodentia › Sciurognathi › Muroidea › Muridae › Murinae › Mus › Mus

Protein attributes

Sequence length	685 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
Protein existence	Evidence 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 matrix › mitochondrion 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.

Ontologies

Keywords
Biological process	DNA replication
Cellular component	Mitochondrion Mitochondrion nucleoid
Coding sequence diversity	Alternative splicing
Domain	Coiled coil Transit peptide
Ligand	ATP-binding Nucleotide-binding
Molecular function	Helicase Hydrolase
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	DNA unwinding involved in replication Inferred from direct assay PubMed 11431692. Source: MGI mitochondrial DNA replication Inferred from mutant phenotype PubMed 18971204. Source: UniProtKB protein hexamerization Inferred from electronic annotation. Source: Compara protein homooligomerization Inferred from electronic annotation. Source: Compara transcription from mitochondrial promoter Inferred from electronic annotation. Source: Compara
Cellular_component	mitochondrial nucleoid Inferred from sequence or structural similarity. Source: UniProtKB
Molecular_function	5'-3' DNA helicase activity Inferred from sequence or structural similarity. Source: UniProtKB ATP binding Inferred from electronic annotation. Source: UniProtKB-KW single-stranded DNA binding Inferred from sequence or structural similarity. Source: UniProtKB
Complete GO annotation...

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 key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Transit peptide	1 – 31	31	Mitochondrion By similarity
	Chain	32 – 685	654	Twinkle protein, mitochondrial		PRO_0000042641
Regions
	Domain	385 – 636	252	SF4 helicase
	Nucleotide binding	416 – 423	8	ATP By similarity
	Coiled coil	454 – 482	29	Potential
Natural variations
	Alternative sequence	1 – 398	398	Missing in isoform 2.		VSP_015962
	Alternative sequence	399 – 415	17	LNRLL…LTVFT → MCCQTLLLTQSFVRPPI in isoform 2.		VSP_015963

Sequences

	Sequence		Length	Mass (Da)
	Isoform 1 [UniParc]. Last modified March 1, 2003. Version 1. Checksum: F9CF69BDC4DCF838	FASTA	685	76,993
	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
	Isoform 2 [UniParc]. Checksum: E636DE51D48B31D3	FASTA	287	32,016
	10 20 30 40 50 60 MCCQTLLLTQ SFVRPPIGPT GSGKTTFISE YALDLCTQGV NTLWGSFEIS NVRLARVMLT 70 80 90 100 110 120 QFAVTRLEEQ LDKYEEWADR FEDLPLYFMT FHGQQSIRSV IDTMQHAVYV YDVCHVVIDN 130 140 150 160 170 180 LQFMMGHEQL SSDRIAAQDY IVGAFRKFAT DNSCHVTLVI HPRKEDDDKE LQTASIFGSA 190 200 210 220 230 240 KASQEADNVL ILQDRKLVTG PGKRYLQVSK NRFDGDVGVF PLEFNKNSLT FSIPPKSKAR 250 260 270 280 LKKIKDDNGL VAKKSSSGKK GAAHQNPEIC LGQDPSPAQP DTSKSSG

References

	« Hide 'large scale' referencesShow '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. , 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.
IPI	IPI00229939. IPI00655230.
RefSeq	NP_722491.2. NM_153796.3.
UniGene	Mm.105585.
3D structure databases
ProteinModelPortal	Q8CIW5.
SMR	Q8CIW5. Positions 260-626.
ModBase	Search...
PTM databases
PhosphoSite	Q8CIW5.
Proteomic databases
PaxDb	Q8CIW5.
PRIDE	Q8CIW5.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENSMUST00000026227; ENSMUSP00000026227; ENSMUSG00000025209.
GeneID	226153.
KEGG	mmu:226153.
UCSC	uc008hqh.1. mouse. uc008hqi.1. mouse.
Organism-specific databases
CTD	226153.
MGI	MGI:2137410. Peo1.
Phylogenomic databases
eggNOG	NOG29349.
GeneTree	ENSGT00390000004495.
HOGENOM	HOG000273872.
HOVERGEN	HBG059782.
InParanoid	Q8CIW5.
OMA	GSWEDFQ.
OrthoDB	EOG434W5N.
Gene expression databases
ArrayExpress	Q8CIW5.
Bgee	Q8CIW5.
CleanEx	MM_PEO1.
Genevestigator	Q8CIW5.
GermOnline	ENSMUSG00000025209. Mus musculus.
Family and domain databases
InterPro	IPR007694. DNA_helicase_DnaB-like_C. IPR027032. Twinkle. [Graphical view]
PANTHER	PTHR12873. PTHR12873. 1 hit.
PROSITE	PS51199. SF4_HELICASE. 1 hit. [Graphical view]
ProtoNet	Search...
Other
NextBio	378032.
SOURCE	Search...

Entry information

Entry name

PEO1_MOUSE

Accession

Primary (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:	May 1, 2013
This is version 81 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program