MyHits has reached its end of life and no longer provides data or services. Thank you for your support and trust for more than 23 years!
However, the webserver will remain online in its present form at least until end of March 2025.
To ensure the future of MyHits, we would be happy if a person or community would take over the resource or parts of it. Interested? Please contact us (myhits [at] sib.swiss).
Pagni M, Ioannidis V, Cerutti L, Zahn-Zabal M, Jongeneel CV, Hau J, Martin O, Kuznetsov D, Falquet L.
MyHits: improvements to an interactive resource for analyzing protein sequences.
Nucleic Acids Res. 2007 Jul; 35(Web Server issue):W433-7
However, the webserver will remain online in its present form at least until end of March 2025.
To ensure the future of MyHits, we would be happy if a person or community would take over the resource or parts of it. Interested? Please contact us (myhits [at] sib.swiss).
Pagni M, Ioannidis V, Cerutti L, Zahn-Zabal M, Jongeneel CV, Hau J, Martin O, Kuznetsov D, Falquet L.
MyHits: improvements to an interactive resource for analyzing protein sequences.
Nucleic Acids Res. 2007 Jul; 35(Web Server issue):W433-7
- MyHits
| Description | RecName: Full=Twinkle protein, mitochondrial {ECO:0000305}; EC=3.6.4.12; AltName: Full=Progressive external ophthalmoplegia 1 protein; AltName: Full=T7 gp4-like protein with intramitochondrial nucleoid localization; AltName: Full=T7-like mitochondrial DNA helicase; AltName: Full=Twinkle mtDNA helicase {ECO:0000312|HGNC:HGNC:1160}; Flags: Precursor; |
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| MyHits synonyms | PEO1_HUMAN , Q96RR1 , B2CQL2 , Q6MZX2 , Q6PJP5 , Q96RR0 , 58186043888234DA |
 Legends: 1, VARIANT R -> Q (in PEOA3; dbSNP:rs137852956). {ECO:0000269|PubMed:19353676, ECO:0000269|PubMed:20479361}; 2, VARIANT R -> W (in PEOA3; also detected in a case showing digenic inheritance). {ECO:0000269|PubMed:12707443, ECO:0000269|PubMed:18575922, ECO:0000269|PubMed:19428252, ECO:0000269|PubMed:20479361}; 3, VARIANT W -> L (in PEOA3; dbSNP:rs111033575). {ECO:0000269|PubMed:11431692}; 4, VARIANT W -> S (in PEOA3). {ECO:0000269|PubMed:18575922}; 5, VARIANT A -> T (in MTDPS7; dbSNP:rs80356542). {ECO:0000269|PubMed:17921179}; 6, VARIANT K -> E (in PEOA3; the phenotype highly overlaps with sensory ataxic neuropathy dysarthria and ophthalmoparesis; dbSNP:rs80356543). {ECO:0000269|PubMed:15668446}; 7, VARIANT K -> T (in PEOA3). {ECO:0000269|PubMed:12921794}; 8, VARIANT R -> P (in PEOA3). {ECO:0000269|PubMed:18575922}; 9, VARIANT R -> Q (in PEO; sporadic case; the patient also carries the S-848 mutation in the POLG gene suggesting digenic inheritance; dbSNP:rs28937887). {ECO:0000269|PubMed:12707443, ECO:0000269|PubMed:12872260, ECO:0000269|PubMed:20479361}; 10, VARIANT P -> L (in PEOA3). {ECO:0000269|PubMed:12163192}; 11, VARIANT G -> R (in dbSNP:rs62626271). {ECO:0000269|Ref.4}; 12, VARIANT R -> P (in PEOA3; dbSNP:rs111033576). {ECO:0000269|PubMed:11431692, ECO:0000269|PubMed:20479361}; 13, VARIANT R -> P (in PEOA3). {ECO:0000269|PubMed:17614277, ECO:0000269|PubMed:20479361}; 14, VARIANT A -> T (in PEOA3; dbSNP:rs111033573). {ECO:0000269|PubMed:11431692, ECO:0000269|PubMed:20479361}; 15, VARIANT L -> G (in MTDPS7; patients manifest multi-organ failure; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:19853444}; 16, VARIANT A -> P (in PEOA3). {ECO:0000269|PubMed:20479361}; 17, VARIANT W -> L (in PEOA3). {ECO:0000269|PubMed:20479361}; 18, VARIANT I -> T (in PEOA3). {ECO:0000269|PubMed:11431692}; 19, VARIANT V -> I (in dbSNP:rs17113613). {ECO:0000269|PubMed:11431692, ECO:0000269|PubMed:12557300, ECO:0000269|PubMed:16639411, ECO:0000269|Ref.4}; 20, VARIANT S -> P (in PEOA3). {ECO:0000269|PubMed:11431692}; 21, VARIANT S -> Y (in PEOA3; dbSNP:rs111033579). {ECO:0000269|PubMed:12163192}; 22, VARIANT F -> C (in PEOA3). {ECO:0000269|PubMed:20479361}; 23, VARIANT F -> L (in PEOA3; dbSNP:rs863223920). {ECO:0000269|PubMed:18396044}; 24, VARIANT R -> Q (in PEOA3). {ECO:0000269|PubMed:11431692, ECO:0000269|PubMed:16639411, ECO:0000269|PubMed:20479361, ECO:0000269|PubMed:20880070}; 25, VARIANT L -> P (in PEOA3; dbSNP:rs111033577). {ECO:0000269|PubMed:11431692, ECO:0000269|PubMed:20479361}; 26, VARIANT R -> H (in PRLTS5; dbSNP:rs556445621). {ECO:0000269|PubMed:25355836}; 27, VARIANT S -> N (in PEOA3). {ECO:0000269|PubMed:18575922}; 28, VARIANT E -> G (in dbSNP:rs11542126); 29, VARIANT W -> G (in PRLTS5; dbSNP:rs672601361). {ECO:0000269|PubMed:25355836}; 30, VARIANT L -> V (in MTDPS7; infantile spinocerebellar ataxia phenotype; dbSNP:rs386834145). {ECO:0000269|PubMed:22353293}; 31, VARIANT T -> I (in MTDPS7; affects helicase activity; dbSNP:rs80356544). {ECO:0000269|PubMed:17722119}; 32, VARIANT Q -> H (in PEOA3). {ECO:0000269|PubMed:20479361}; 33, VARIANT W -> C (in PEOA3; dbSNP:rs111033574). {ECO:0000269|PubMed:11431692}; 34, VARIANT W -> S (in PEOA3; dbSNP:rs11542127). {ECO:0000269|PubMed:18575922}; 35, VARIANT A -> D (in PEOA3). {ECO:0000269|PubMed:20479361}; 36, VARIANT A -> P (in PEOA3; dbSNP:rs111033572). {ECO:0000269|PubMed:11431692}; 37, VARIANT F -> I (in PEOA3). {ECO:0000269|PubMed:18575922}; 38, VARIANT E -> K (in PEOA3). {ECO:0000269|PubMed:18575922, ECO:0000269|PubMed:20479361}; 39, VARIANT V -> I (in PRLTS5; dbSNP:rs369588002). {ECO:0000269|PubMed:25355836}; 40, VARIANT Y -> C (in MTDPS7; dbSNP:rs80356540). {ECO:0000269|PubMed:16135556, ECO:0000269|PubMed:17921179}; 41, VARIANT N -> S (in PRLTS5; dbSNP:rs672601360). {ECO:0000269|PubMed:25355836}; 42, VARIANT N -> K (in dbSNP:rs62626293). {ECO:0000269|Ref.4}; 43, CONFLICT N -> D (in Ref. 3; CAE45905). {ECO:0000305}; 44, TRANSIT Mitochondrion. {ECO:0000255}; 45, SF4 helicase. {ECO:0000255|PROSITE- ProRule:PRU00596}; 46, NP_BIND ATP. {ECO:0000255|PROSITE- ProRule:PRU00596}; 47, VAR_SEQ Missing (in isoform 3). {ECO:0000303|PubMed:17974005}; 48, VAR_SEQ ASQE -> VSGL (in isoform 2). {ECO:0000303|PubMed:11431692, ECO:0000303|PubMed:15489334}; 49, VAR_SEQ Missing (in isoform 2). {ECO:0000303|PubMed:11431692, ECO:0000303|PubMed:15489334}.
| |
ID PEO1_HUMAN Reviewed; 684 AA.
AC Q96RR1; B2CQL2; Q6MZX2; Q6PJP5; Q96RR0;
DT 25-OCT-2005, integrated into UniProtKB/Swiss-Prot.
DT 01-DEC-2001, sequence version 1.
DT 10-MAY-2017, entry version 142.
DE RecName: Full=Twinkle protein, mitochondrial {ECO:0000305};
DE EC=3.6.4.12;
DE AltName: Full=Progressive external ophthalmoplegia 1 protein;
DE AltName: Full=T7 gp4-like protein with intramitochondrial nucleoid localization;
DE AltName: Full=T7-like mitochondrial DNA helicase;
DE AltName: Full=Twinkle mtDNA helicase {ECO:0000312|HGNC:HGNC:1160};
DE Flags: Precursor;
GN Name=TWNK {ECO:0000312|HGNC:HGNC:1160}; Synonyms=C10orf2, PEO1;
OS Homo sapiens (Human).
OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
OC Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
OC Catarrhini; Hominidae; Homo.
OX NCBI_TaxID=9606;
RN [1]
RP NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), TISSUE SPECIFICITY,
RP SUBCELLULAR LOCATION, VARIANT ILE-368, AND VARIANTS PEOA3 LEU-315;
RP PRO-354; THR-359; THR-367; PRO-369; GLN-374; PRO-381; CYS-474 AND
RP PRO-475.
RX PubMed=11431692; DOI=10.1038/90058;
RA Spelbrink J.N., Li F.-Y., Tiranti V., Nikali K., Yuan Q.-P., Tariq M.,
RA Wanrooij S., Garrido N., Comi G., Morandi L., Santoro L., Toscano A.,
RA Fabrizi G.-M., Somer H., Croxen R., Beeson D., Poulton J.,
RA Suomalainen A., Jacobs H.T., Zeviani M., Larsson C.;
RT "Human mitochondrial DNA deletions associated with mutations in the
RT gene for Twinkle, a phage T7 gene 4-like protein localized in
RT mitochondria.";
RL Nat. Genet. 28:223-231(2001).
RN [2]
RP ERRATUM.
RA Spelbrink J.N., Li F.-Y., Tiranti V., Nikali K., Yuan Q.-P., Tariq M.,
RA Wanrooij S., Garrido N., Comi G., Morandi L., Santoro L., Toscano A.,
RA Fabrizi G.-M., Somer H., Croxen R., Beeson D., Poulton J.,
RA Suomalainen A., Jacobs H.T., Zeviani M., Larsson C.;
RL Nat. Genet. 29:100-100(2001).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3).
RC TISSUE=Fetal brain;
RX PubMed=17974005; DOI=10.1186/1471-2164-8-399;
RA Bechtel S., Rosenfelder H., Duda A., Schmidt C.P., Ernst U.,
RA Wellenreuther R., Mehrle A., Schuster C., Bahr A., Bloecker H.,
RA Heubner D., Hoerlein A., Michel G., Wedler H., Koehrer K.,
RA Ottenwaelder B., Poustka A., Wiemann S., Schupp I.;
RT "The full-ORF clone resource of the German cDNA consortium.";
RL BMC Genomics 8:399-399(2007).
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS ARG-348; ILE-368 AND
RP LYS-634.
RG NIEHS SNPs program;
RL Submitted (MAR-2008) to the EMBL/GenBank/DDBJ databases.
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15164054; DOI=10.1038/nature02462;
RA Deloukas P., Earthrowl M.E., Grafham D.V., Rubenfield M., French L.,
RA Steward C.A., Sims S.K., Jones M.C., Searle S., Scott C., Howe K.,
RA Hunt S.E., Andrews T.D., Gilbert J.G.R., Swarbreck D., Ashurst J.L.,
RA Taylor A., Battles J., Bird C.P., Ainscough R., Almeida J.P.,
RA Ashwell R.I.S., Ambrose K.D., Babbage A.K., Bagguley C.L., Bailey J.,
RA Banerjee R., Bates K., Beasley H., Bray-Allen S., Brown A.J.,
RA Brown J.Y., Burford D.C., Burrill W., Burton J., Cahill P., Camire D.,
RA Carter N.P., Chapman J.C., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Corby N., Coulson A., Dhami P., Dutta I., Dunn M., Faulkner L.,
RA Frankish A., Frankland J.A., Garner P., Garnett J., Gribble S.,
RA Griffiths C., Grocock R., Gustafson E., Hammond S., Harley J.L.,
RA Hart E., Heath P.D., Ho T.P., Hopkins B., Horne J., Howden P.J.,
RA Huckle E., Hynds C., Johnson C., Johnson D., Kana A., Kay M.,
RA Kimberley A.M., Kershaw J.K., Kokkinaki M., Laird G.K., Lawlor S.,
RA Lee H.M., Leongamornlert D.A., Laird G., Lloyd C., Lloyd D.M.,
RA Loveland J., Lovell J., McLaren S., McLay K.E., McMurray A.,
RA Mashreghi-Mohammadi M., Matthews L., Milne S., Nickerson T.,
RA Nguyen M., Overton-Larty E., Palmer S.A., Pearce A.V., Peck A.I.,
RA Pelan S., Phillimore B., Porter K., Rice C.M., Rogosin A., Ross M.T.,
RA Sarafidou T., Sehra H.K., Shownkeen R., Skuce C.D., Smith M.,
RA Standring L., Sycamore N., Tester J., Thorpe A., Torcasso W.,
RA Tracey A., Tromans A., Tsolas J., Wall M., Walsh J., Wang H.,
RA Weinstock K., West A.P., Willey D.L., Whitehead S.L., Wilming L.,
RA Wray P.W., Young L., Chen Y., Lovering R.C., Moschonas N.K.,
RA Siebert R., Fechtel K., Bentley D., Durbin R.M., Hubbard T.,
RA Doucette-Stamm L., Beck S., Smith D.R., Rogers J.;
RT "The DNA sequence and comparative analysis of human chromosome 10.";
RL Nature 429:375-381(2004).
RN [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L.,
RA Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R.,
RA Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V.,
RA Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R.,
RA Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H.,
RA Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G.,
RA Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W.,
RA Venter J.C.;
RL Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN [7]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 132-582 (ISOFORM 2).
RC TISSUE=Skin;
RX PubMed=15489334; DOI=10.1101/gr.2596504;
RG The MGC Project Team;
RT "The status, quality, and expansion of the NIH full-length cDNA
RT project: the Mammalian Gene Collection (MGC).";
RL Genome Res. 14:2121-2127(2004).
RN [8]
RP PROBABLE FUNCTION.
RX PubMed=12975372; DOI=10.1074/jbc.M306981200;
RA Korhonen J.A., Gaspari M., Falkenberg M.;
RT "TWINKLE has 5' -> 3' DNA helicase activity and is specifically
RT stimulated by mitochondrial single-stranded DNA-binding protein.";
RL J. Biol. Chem. 278:48627-48632(2003).
RN [9]
RP FUNCTION, AND INTERACTION WITH POLG.
RX PubMed=15167897; DOI=10.1038/sj.emboj.7600257;
RA Korhonen J.A., Pham X.H., Pellegrini M., Falkenberg M.;
RT "Reconstitution of a minimal mtDNA replisome in vitro.";
RL EMBO J. 23:2423-2429(2004).
RN [10]
RP TISSUE SPECIFICITY, AND COREGULATION WITH MRPL43.
RX PubMed=15509589; DOI=10.1093/hmg/ddh342;
RA Tyynismaa H., Sembongi H., Bokori-Brown M., Granycome C., Ashley N.,
RA Poulton J., Jalanko A., Spelbrink J.N., Holt I.J., Suomalainen A.;
RT "Twinkle helicase is essential for mtDNA maintenance and regulates
RT mtDNA copy number.";
RL Hum. Mol. Genet. 13:3219-3227(2004).
RN [11]
RP INTERACTION WITH LONP1.
RX PubMed=14739292; DOI=10.1074/jbc.M309642200;
RA Liu T., Lu B., Lee I., Ondrovicova G., Kutejova E., Suzuki C.K.;
RT "DNA and RNA binding by the mitochondrial lon protease is regulated by
RT nucleotide and protein substrate.";
RL J. Biol. Chem. 279:13902-13910(2004).
RN [12]
RP POSSIBLE MECHANISM OF DELETION FORMATION.
RX PubMed=15181170; DOI=10.1093/nar/gkh634;
RA Wanrooij S., Luoma P., van Goethem G., van Broeckhoven C.,
RA Suomalainen A., Spelbrink J.N.;
RT "Twinkle and POLG defects enhance age-dependent accumulation of
RT mutations in the control region of mtDNA.";
RL Nucleic Acids Res. 32:3053-3064(2004).
RN [13]
RP VARIANTS PEOA3 LEU-335 AND TYR-369.
RX PubMed=12163192; DOI=10.1016/S0022-510X(02)00190-9;
RA Lewis S., Hutchison W., Thyagarajan D., Dahl H.-H.M.;
RT "Clinical and molecular features of adPEO due to mutations in the
RT Twinkle gene.";
RL J. Neurol. Sci. 201:39-44(2002).
RN [14]
RP VARIANT ILE-368.
RX PubMed=12557300; DOI=10.1002/ana.10430;
RA Arenas J., Briem E., Dahl H.-H.M., Hutchison W., Lewis S.,
RA Martin M.A., Spelbrink H., Tiranti V., Jacobs H., Zeviani M.;
RT "The V368I mutation in Twinkle does not segregate with AdPEO.";
RL Ann. Neurol. 53:278-278(2003).
RN [15]
RP VARIANT PEO GLN-334.
RX PubMed=12872260; DOI=10.1002/humu.10246;
RA Van Goethem G., Loefgren A., Dermaut B., Ceuterick C., Martin J.-J.,
RA Van Broeckhoven C.;
RT "Digenic progressive external ophthalmoplegia in a sporadic patient:
RT recessive mutations in POLG and C10orf2/Twinkle.";
RL Hum. Mutat. 22:175-176(2003).
RN [16]
RP VARIANTS PEO TRP-303 AND GLN-334.
RX PubMed=12707443; DOI=10.1212/01.WNL.0000056088.09408.3C;
RA Agostino A., Valletta L., Chinnery P.F., Ferrari G., Carrara F.,
RA Taylor R.W., Schaefer A.M., Turnbull D.M., Tiranti V., Zeviani M.;
RT "Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive
RT external ophthalmoplegia (PEO).";
RL Neurology 60:1354-1356(2003).
RN [17]
RP VARIANT PEOA3 THR-319.
RX PubMed=12921794; DOI=10.1016/S0960-8966(03)00071-3;
RA Deschauer M., Kiefer R., Blakely E.L., He L., Zierz S., Turnbull D.M.,
RA Taylor R.W.;
RT "A novel Twinkle gene mutation in autosomal dominant progressive
RT external ophthalmoplegia.";
RL Neuromuscul. Disord. 13:568-572(2003).
RN [18]
RP VARIANT MTDPS7 CYS-508.
RX PubMed=16135556; DOI=10.1093/hmg/ddi328;
RA Nikali K., Suomalainen A., Saharinen J., Kuokkanen M., Spelbrink J.N.,
RA Loennqvist T., Peltonen L.;
RT "Infantile onset spinocerebellar ataxia is caused by recessive
RT mutations in mitochondrial proteins Twinkle and Twinky.";
RL Hum. Mol. Genet. 14:2981-2990(2005).
RN [19]
RP VARIANT PEOA3 GLU-319.
RX PubMed=15668446; DOI=10.1212/01.WNL.0000149767.51152.83;
RA Hudson G., Deschauer M., Busse K., Zierz S., Chinnery P.F.;
RT "Sensory ataxic neuropathy due to a novel C10Orf2 mutation with
RT probable germline mosaicism.";
RL Neurology 64:371-373(2005).
RN [20]
RP VARIANT PEOA3 GLN-374, AND VARIANT ILE-368.
RX PubMed=16639411; DOI=10.1038/sj.ejhg.5201627;
RA Naiemi M., Bannwarth S., Procaccio V., Pouget J., Desnuelle C.,
RA Pellissier J.-F., Roetig A., Munnich A., Calvas P., Richelme C.,
RA Jonveaux P., Castelnovo G., Simon M., Clanet M., Wallace D.,
RA Paquis-Flucklinger V.;
RT "Molecular analysis of ANT1, TWINKLE and POLG in patients with
RT multiple deletions or depletion of mitochondrial DNA by a dHPLC-based
RT assay.";
RL Eur. J. Hum. Genet. 14:917-922(2006).
RN [21]
RP VARIANT MTDPS7 ILE-457, AND CHARACTERIZATION OF VARIANT MTDPS7
RP ILE-457.
RX PubMed=17722119; DOI=10.1002/ana.21207;
RA Sarzi E., Goffart S., Serre V., Chretien D., Slama A., Munnich A.,
RA Spelbrink J.N., Roetig A.;
RT "Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA
RT depletion.";
RL Ann. Neurol. 62:579-587(2007).
RN [22]
RP VARIANTS MTDPS7 THR-318 AND CYS-508.
RX PubMed=17921179; DOI=10.1093/brain/awm242;
RA Hakonen A.H., Isohanni P., Paetau A., Herva R., Suomalainen A.,
RA Lonnqvist T.;
RT "Recessive Twinkle mutations in early onset encephalopathy with mtDNA
RT depletion.";
RL Brain 130:3032-3040(2007).
RN [23]
RP VARIANT PEOA3 PRO-357.
RX PubMed=17614277; DOI=10.1016/j.nmd.2007.05.006;
RA Rivera H., Blazquez A., Carretero J., Alvarez-Cermeno J.C., Campos Y.,
RA Cabello A., Gonzalez-Vioque E., Borstein B., Garesse R., Arenas J.,
RA Martin M.A.;
RT "Mild ocular myopathy associated with a novel mutation in
RT mitochondrial twinkle helicase.";
RL Neuromuscul. Disord. 17:677-680(2007).
RN [24]
RP VARIANTS PEOA3 TRP-303; SER-315; PRO-334; ASN-426; SER-474; ILE-478
RP AND LYS-479.
RX PubMed=18575922; DOI=10.1007/s00415-008-0926-3;
RA Virgilio R., Ronchi D., Hadjigeorgiou G.M., Bordoni A., Saladino F.,
RA Moggio M., Adobbati L., Kafetsouli D., Tsironi E., Previtali S.,
RA Papadimitriou A., Bresolin N., Comi G.P.;
RT "Novel Twinkle (PEO1) gene mutations in Mendelian progressive external
RT ophthalmoplegia.";
RL J. Neurol. 255:1384-1391(2008).
RN [25]
RP VARIANT PEOA3 LEU-370.
RX PubMed=18396044; DOI=10.1016/j.nmd.2007.10.007;
RA Jeppesen T.D., Schwartz M., Colding-Jorgensen E., Krag T.,
RA Hauerslev S., Vissing J.;
RT "Phenotype and clinical course in a family with a new de novo Twinkle
RT gene mutation.";
RL Neuromuscul. Disord. 18:306-309(2008).
RN [26]
RP VARIANT PEOA3 GLN-303.
RX PubMed=19353676; DOI=10.1002/ajmg.a.32731;
RA Van Hove J.L., Cunningham V., Rice C., Ringel S.P., Zhang Q.,
RA Chou P.C., Truong C.K., Wong L.J.;
RT "Finding twinkle in the eyes of a 71-year-old lady: a case report and
RT review of the genotypic and phenotypic spectrum of TWINKLE-related
RT dominant disease.";
RL Am. J. Med. Genet. A 149:861-867(2009).
RN [27]
RP VARIANT PEOA3 TRP-303.
RX PubMed=19428252; DOI=10.1016/j.nmd.2009.04.008;
RA Negro R., Zoccolella S., Dell'aglio R., Amati A., Artuso L.,
RA Bisceglia L., Lavolpe V., Papa S., Serlenga L., Petruzzella V.;
RT "Molecular analysis in a family presenting with a mild form of late-
RT onset autosomal dominant chronic progressive external
RT ophthalmoplegia.";
RL Neuromuscul. Disord. 19:423-426(2009).
RN [28]
RP VARIANT MTDPS7 GLY-360.
RX PubMed=19853444; DOI=10.1016/j.nmd.2009.10.002;
RA Bohlega S., Van Goethem G., Al Semari A., Lofgren A., Al Hamed M.,
RA Van Broeckhoven C., Kambouris M.;
RT "Novel Twinkle gene mutation in autosomal dominant progressive
RT external ophthalmoplegia and multisystem failure.";
RL Neuromuscul. Disord. 19:845-848(2009).
RN [29]
RP VARIANTS PEOA3 GLN-303; TRP-303; GLN-334; PRO-354; PRO-357; THR-359;
RP PRO-362; LEU-363; CYS-370; GLN-374; PRO-381; HIS-458; PRO-460; ASP-475
RP AND LYS-479.
RX PubMed=20479361; DOI=10.1212/WNL.0b013e3181df099f;
RA Fratter C., Gorman G.S., Stewart J.D., Buddles M., Smith C., Evans J.,
RA Seller A., Poulton J., Roberts M., Hanna M.G., Rahman S., Omer S.E.,
RA Klopstock T., Schoser B., Kornblum C., Czermin B., Lecky B.,
RA Blakely E.L., Craig K., Chinnery P.F., Turnbull D.M., Horvath R.,
RA Taylor R.W.;
RT "The clinical, histochemical, and molecular spectrum of PEO1
RT (Twinkle)-linked adPEO.";
RL Neurology 74:1619-1626(2010).
RN [30]
RP VARIANT PEOA3 GLN-374.
RX PubMed=20880070; DOI=10.1111/j.1468-1331.2010.03171.x;
RA Martin-Negrier M.L., Sole G., Jardel C., Vital C., Ferrer X.,
RA Vital A.;
RT "TWINKLE gene mutation: report of a French family with an autosomal
RT dominant progressive external ophthalmoplegia and literature review.";
RL Eur. J. Neurol. 18:436-441(2011).
RN [31]
RP VARIANT MTDPS7 VAL-456.
RX PubMed=22353293; DOI=10.1016/j.pediatrneurol.2011.12.006;
RA Dundar H., Ozgul R.K., Yalnizoglu D., Erdem S., Oguz K.K., Tuncel D.,
RA Temucin C.M., Dursun A.;
RT "Identification of a novel Twinkle mutation in a family with infantile
RT onset spinocerebellar ataxia by whole exome sequencing.";
RL Pediatr. Neurol. 46:172-177(2012).
RN [32]
RP INVOLVEMENT IN PRLTS5, AND VARIANTS PRLTS5 HIS-391; GLY-441; ILE-507
RP AND SER-585.
RX PubMed=25355836; DOI=10.1212/WNL.0000000000001036;
RA Morino H., Pierce S.B., Matsuda Y., Walsh T., Ohsawa R., Newby M.,
RA Hiraki-Kamon K., Kuramochi M., Lee M.K., Klevit R.E., Martin A.,
RA Maruyama H., King M.C., Kawakami H.;
RT "Mutations in Twinkle primase-helicase cause Perrault syndrome with
RT neurologic features.";
RL Neurology 83:2054-2061(2014).
CC -!- FUNCTION: Involved in mitochondrial DNA (mtDNA) metabolism. Could
CC function as an adenine nucleotide-dependent DNA helicase. Function
CC inferred to be critical for lifetime maintenance of mtDNA
CC integrity. In vitro, forms in combination with POLG, a processive
CC replication machinery, which can use double-stranded DNA (dsDNA)
CC as template to synthesize single-stranded DNA (ssDNA) molecules.
CC May be a key regulator of mtDNA copy number in mammals.
CC {ECO:0000269|PubMed:15167897}.
CC -!- CATALYTIC ACTIVITY: ATP + H(2)O = ADP + phosphate.
CC -!- SUBUNIT: Forms multimers in vitro, including hexamers. Interacts
CC with LONP1 (PubMed:14739292). Interacts with POLG in vitro
CC (PubMed:15167897). {ECO:0000269|PubMed:14739292,
CC ECO:0000269|PubMed:15167897}.
CC -!- SUBCELLULAR LOCATION: Mitochondrion matrix, mitochondrion nucleoid
CC {ECO:0000269|PubMed:11431692}. Note=Colocalizes with mtDNA in
CC mitochondrial nucleoids, a nucleoproteins complex consisting of a
CC number of copies of proteins associated with mtDNA, probably
CC involved in mtDNA maintenance and expression.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=1;
CC IsoId=Q96RR1-1; Sequence=Displayed;
CC Name=2; Synonyms=Twinky;
CC IsoId=Q96RR1-2; Sequence=VSP_015960, VSP_015961;
CC Name=3;
CC IsoId=Q96RR1-3; Sequence=VSP_015959;
CC -!- TISSUE SPECIFICITY: High relative levels in skeletal muscle,
CC testis and pancreas. Lower levels of expression in the heart,
CC brain, placenta, lung, liver, kidney, spleen, thymus, prostate,
CC ovary, small intestine, colon and leukocytes. Expression is
CC coregulated with MRPL43. {ECO:0000269|PubMed:11431692,
CC ECO:0000269|PubMed:15509589}.
CC -!- DISEASE: Progressive external ophthalmoplegia with mitochondrial
CC DNA deletions, autosomal dominant, 3 (PEOA3) [MIM:609286]: A
CC disorder characterized by progressive weakness of ocular muscles
CC and levator muscle of the upper eyelid. In a minority of cases, it
CC is associated with skeletal myopathy, which predominantly involves
CC axial or proximal muscles and which causes abnormal fatigability
CC and even permanent muscle weakness. Ragged-red fibers and atrophy
CC are found on muscle biopsy. A large proportion of chronic
CC ophthalmoplegias are associated with other symptoms, leading to a
CC multisystemic pattern of this disease. Additional symptoms are
CC variable, and may include cataracts, hearing loss, sensory axonal
CC neuropathy, ataxia, depression, hypogonadism, and parkinsonism.
CC {ECO:0000269|PubMed:11431692, ECO:0000269|PubMed:12163192,
CC ECO:0000269|PubMed:12921794, ECO:0000269|PubMed:15668446,
CC ECO:0000269|PubMed:16639411, ECO:0000269|PubMed:17614277,
CC ECO:0000269|PubMed:18396044, ECO:0000269|PubMed:18575922,
CC ECO:0000269|PubMed:19353676, ECO:0000269|PubMed:19428252,
CC ECO:0000269|PubMed:20479361, ECO:0000269|PubMed:20880070}.
CC Note=The disease is caused by mutations affecting the gene
CC represented in this entry.
CC -!- DISEASE: Mitochondrial DNA depletion syndrome 7 (MTDPS7)
CC [MIM:271245]: A severe disease associated with mitochondrial
CC dysfunction. Some patients are affected by progressive atrophy of
CC the cerebellum, brain stem, the spinal cord, and sensory axonal
CC neuropathy. Clinical features include hypotonia, athetosis,
CC ataxia, ophthalmoplegia, sensorineural hearing deficit, sensory
CC axonal neuropathy, epileptic encephalopathy and female
CC hypogonadism. In some individuals liver dysfunction and multi-
CC organ failure is present. {ECO:0000269|PubMed:16135556,
CC ECO:0000269|PubMed:17722119, ECO:0000269|PubMed:17921179,
CC ECO:0000269|PubMed:19853444, ECO:0000269|PubMed:22353293}.
CC Note=The disease is caused by mutations affecting the gene
CC represented in this entry.
CC -!- DISEASE: Perrault syndrome 5 (PRLTS5) [MIM:616138]: A form of
CC Perrault syndrome, a sex-influenced disorder characterized by
CC sensorineural deafness in both males and females, and ovarian
CC dysgenesis in females. Affected females have primary amenorrhea,
CC streak gonads, and infertility, whereas affected males show normal
CC pubertal development and are fertile.
CC {ECO:0000269|PubMed:25355836}. Note=The disease is caused by
CC mutations affecting the gene represented in this entry.
CC -!- WEB RESOURCE: Name=NIEHS-SNPs;
CC URL="http://egp.gs.washington.edu/data/peo1/";
CC -----------------------------------------------------------------------
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DR EMBL; AF292004; AAK69558.1; -; mRNA.
DR EMBL; AF292005; AAK69559.1; -; mRNA.
DR EMBL; BX640829; CAE45905.1; -; mRNA.
DR EMBL; AL133215; CAI10924.1; -; Genomic_DNA.
DR EMBL; EU543650; ACB21043.1; -; Genomic_DNA.
DR EMBL; AL133215; CAI10925.1; -; Genomic_DNA.
DR EMBL; CH471066; EAW49794.1; -; Genomic_DNA.
DR EMBL; BC013349; AAH13349.1; -; mRNA.
DR CCDS; CCDS53570.1; -. [Q96RR1-2]
DR CCDS; CCDS7506.1; -. [Q96RR1-1]
DR RefSeq; NP_001157284.1; NM_001163812.1. [Q96RR1-2]
DR RefSeq; NP_068602.2; NM_021830.4. [Q96RR1-1]
DR UniGene; Hs.22678; -.
DR ProteinModelPortal; Q96RR1; -.
DR SMR; Q96RR1; -.
DR BioGrid; 121166; 33.
DR IntAct; Q96RR1; 22.
DR MINT; MINT-1385725; -.
DR STRING; 9606.ENSP00000309595; -.
DR iPTMnet; Q96RR1; -.
DR PhosphoSitePlus; Q96RR1; -.
DR BioMuta; PEO1; -.
DR DMDM; 74752111; -.
DR EPD; Q96RR1; -.
DR MaxQB; Q96RR1; -.
DR PaxDb; Q96RR1; -.
DR PeptideAtlas; Q96RR1; -.
DR PRIDE; Q96RR1; -.
DR Ensembl; ENST00000311916; ENSP00000309595; ENSG00000107815. [Q96RR1-1]
DR Ensembl; ENST00000370228; ENSP00000359248; ENSG00000107815. [Q96RR1-2]
DR GeneID; 56652; -.
DR KEGG; hsa:56652; -.
DR UCSC; uc001ksf.3; human. [Q96RR1-1]
DR CTD; 56652; -.
DR DisGeNET; 56652; -.
DR GeneCards; C10orf2; -.
DR GeneReviews; C10orf2; -.
DR HGNC; HGNC:1160; TWNK.
DR HPA; HPA002532; -.
DR MalaCards; C10orf2; -.
DR MIM; 271245; phenotype.
DR MIM; 606075; gene.
DR MIM; 609286; phenotype.
DR MIM; 616138; phenotype.
DR neXtProt; NX_Q96RR1; -.
DR OpenTargets; ENSG00000107815; -.
DR Orphanet; 254892; Autosomal dominant progressive external ophthalmoplegia.
DR Orphanet; 1186; Infantile onset spinocerebellar ataxia.
DR Orphanet; 363534; Mitochondrial DNA depletion syndrome, hepatocerebrorenal form.
DR Orphanet; 2855; Perrault syndrome.
DR Orphanet; 70595; Sensory ataxic neuropathy - dysarthria - ophthalmoparesis.
DR PharmGKB; PA162377675; -.
DR eggNOG; KOG2373; Eukaryota.
DR eggNOG; ENOG410XRZX; LUCA.
DR GeneTree; ENSGT00390000004495; -.
DR HOGENOM; HOG000273872; -.
DR HOVERGEN; HBG059782; -.
DR InParanoid; Q96RR1; -.
DR KO; K17680; -.
DR OMA; LPLRGEW; -.
DR OrthoDB; EOG091G03Y8; -.
DR PhylomeDB; Q96RR1; -.
DR TreeFam; TF105994; -.
DR BRENDA; 3.6.4.12; 2681.
DR Reactome; R-HSA-2151201; Transcriptional activation of mitochondrial biogenesis.
DR ChiTaRS; C10orf2; human.
DR GeneWiki; PEO1; -.
DR GenomeRNAi; 56652; -.
DR PRO; PR:Q96RR1; -.
DR Proteomes; UP000005640; Chromosome 10.
DR Bgee; ENSG00000107815; -.
DR CleanEx; HS_C10orf2; -.
DR ExpressionAtlas; Q96RR1; baseline and differential.
DR Genevisible; Q96RR1; HS.
DR GO; GO:0005759; C:mitochondrial matrix; TAS:Reactome.
DR GO; GO:0042645; C:mitochondrial nucleoid; IDA:UniProtKB.
DR GO; GO:0043139; F:5'-3' DNA helicase activity; IDA:UniProtKB.
DR GO; GO:0005524; F:ATP binding; IEA:UniProtKB-KW.
DR GO; GO:0002020; F:protease binding; IPI:UniProtKB.
DR GO; GO:0003697; F:single-stranded DNA binding; IDA:UniProtKB.
DR GO; GO:0071333; P:cellular response to glucose stimulus; IEA:Ensembl.
DR GO; GO:0006268; P:DNA unwinding involved in DNA replication; IEA:Ensembl.
DR GO; GO:0006264; P:mitochondrial DNA replication; IMP:UniProtKB.
DR GO; GO:0007005; P:mitochondrion organization; TAS:Reactome.
DR GO; GO:0034214; P:protein hexamerization; IDA:UniProtKB.
DR GO; GO:0051260; P:protein homooligomerization; IDA:UniProtKB.
DR GO; GO:0006390; P:transcription from mitochondrial promoter; IMP:UniProtKB.
DR CDD; cd01029; TOPRIM_primases; 1.
DR InterPro; IPR007694; DNA_helicase_DnaB-like_C.
DR InterPro; IPR027417; P-loop_NTPase.
DR InterPro; IPR034154; TOPRIM_DnaG/twinkle.
DR SUPFAM; SSF52540; SSF52540; 1.
DR PROSITE; PS51199; SF4_HELICASE; 1.
PE 1: Evidence at protein level;
KW Alternative splicing; ATP-binding; Complete proteome; Deafness;
KW Disease mutation; DNA replication; Helicase; Hydrolase; Mitochondrion;
KW Mitochondrion nucleoid; Neurodegeneration; Neuropathy;
KW Nucleotide-binding; Polymorphism;
KW Progressive external ophthalmoplegia; Reference proteome;
KW Transit peptide.
FT TRANSIT 1 31 Mitochondrion. {ECO:0000255}.
FT CHAIN 32 684 Twinkle protein, mitochondrial.
FT /FTId=PRO_0000042640.
FT DOMAIN 384 635 SF4 helicase. {ECO:0000255|PROSITE-
FT ProRule:PRU00596}.
FT NP_BIND 415 422 ATP. {ECO:0000255|PROSITE-
FT ProRule:PRU00596}.
FT VAR_SEQ 532 684 Missing (in isoform 3).
FT {ECO:0000303|PubMed:17974005}.
FT /FTId=VSP_015959.
FT VAR_SEQ 579 582 ASQE -> VSGL (in isoform 2).
FT {ECO:0000303|PubMed:11431692,
FT ECO:0000303|PubMed:15489334}.
FT /FTId=VSP_015960.
FT VAR_SEQ 583 684 Missing (in isoform 2).
FT {ECO:0000303|PubMed:11431692,
FT ECO:0000303|PubMed:15489334}.
FT /FTId=VSP_015961.
FT VARIANT 303 303 R -> Q (in PEOA3; dbSNP:rs137852956).
FT {ECO:0000269|PubMed:19353676,
FT ECO:0000269|PubMed:20479361}.
FT /FTId=VAR_065102.
FT VARIANT 303 303 R -> W (in PEOA3; also detected in a case
FT showing digenic inheritance).
FT {ECO:0000269|PubMed:12707443,
FT ECO:0000269|PubMed:18575922,
FT ECO:0000269|PubMed:19428252,
FT ECO:0000269|PubMed:20479361}.
FT /FTId=VAR_023647.
FT VARIANT 315 315 W -> L (in PEOA3; dbSNP:rs111033575).
FT {ECO:0000269|PubMed:11431692}.
FT /FTId=VAR_023648.
FT VARIANT 315 315 W -> S (in PEOA3).
FT {ECO:0000269|PubMed:18575922}.
FT /FTId=VAR_065103.
FT VARIANT 318 318 A -> T (in MTDPS7; dbSNP:rs80356542).
FT {ECO:0000269|PubMed:17921179}.
FT /FTId=VAR_065104.
FT VARIANT 319 319 K -> E (in PEOA3; the phenotype highly
FT overlaps with sensory ataxic neuropathy
FT dysarthria and ophthalmoparesis;
FT dbSNP:rs80356543).
FT {ECO:0000269|PubMed:15668446}.
FT /FTId=VAR_023649.
FT VARIANT 319 319 K -> T (in PEOA3).
FT {ECO:0000269|PubMed:12921794}.
FT /FTId=VAR_023650.
FT VARIANT 334 334 R -> P (in PEOA3).
FT {ECO:0000269|PubMed:18575922}.
FT /FTId=VAR_065105.
FT VARIANT 334 334 R -> Q (in PEO; sporadic case; the
FT patient also carries the S-848 mutation
FT in the POLG gene suggesting digenic
FT inheritance; dbSNP:rs28937887).
FT {ECO:0000269|PubMed:12707443,
FT ECO:0000269|PubMed:12872260,
FT ECO:0000269|PubMed:20479361}.
FT /FTId=VAR_023651.
FT VARIANT 335 335 P -> L (in PEOA3).
FT {ECO:0000269|PubMed:12163192}.
FT /FTId=VAR_023652.
FT VARIANT 348 348 G -> R (in dbSNP:rs62626271).
FT {ECO:0000269|Ref.4}.
FT /FTId=VAR_062268.
FT VARIANT 354 354 R -> P (in PEOA3; dbSNP:rs111033576).
FT {ECO:0000269|PubMed:11431692,
FT ECO:0000269|PubMed:20479361}.
FT /FTId=VAR_023653.
FT VARIANT 357 357 R -> P (in PEOA3).
FT {ECO:0000269|PubMed:17614277,
FT ECO:0000269|PubMed:20479361}.
FT /FTId=VAR_065106.
FT VARIANT 359 359 A -> T (in PEOA3; dbSNP:rs111033573).
FT {ECO:0000269|PubMed:11431692,
FT ECO:0000269|PubMed:20479361}.
FT /FTId=VAR_023654.
FT VARIANT 360 360 L -> G (in MTDPS7; patients manifest
FT multi-organ failure; requires 2
FT nucleotide substitutions).
FT {ECO:0000269|PubMed:19853444}.
FT /FTId=VAR_065107.
FT VARIANT 362 362 A -> P (in PEOA3).
FT {ECO:0000269|PubMed:20479361}.
FT /FTId=VAR_065108.
FT VARIANT 363 363 W -> L (in PEOA3).
FT {ECO:0000269|PubMed:20479361}.
FT /FTId=VAR_065109.
FT VARIANT 367 367 I -> T (in PEOA3).
FT {ECO:0000269|PubMed:11431692}.
FT /FTId=VAR_023655.
FT VARIANT 368 368 V -> I (in dbSNP:rs17113613).
FT {ECO:0000269|PubMed:11431692,
FT ECO:0000269|PubMed:12557300,
FT ECO:0000269|PubMed:16639411,
FT ECO:0000269|Ref.4}.
FT /FTId=VAR_023656.
FT VARIANT 369 369 S -> P (in PEOA3).
FT {ECO:0000269|PubMed:11431692}.
FT /FTId=VAR_023657.
FT VARIANT 369 369 S -> Y (in PEOA3; dbSNP:rs111033579).
FT {ECO:0000269|PubMed:12163192}.
FT /FTId=VAR_023658.
FT VARIANT 370 370 F -> C (in PEOA3).
FT {ECO:0000269|PubMed:20479361}.
FT /FTId=VAR_065110.
FT VARIANT 370 370 F -> L (in PEOA3; dbSNP:rs863223920).
FT {ECO:0000269|PubMed:18396044}.
FT /FTId=VAR_065111.
FT VARIANT 374 374 R -> Q (in PEOA3).
FT {ECO:0000269|PubMed:11431692,
FT ECO:0000269|PubMed:16639411,
FT ECO:0000269|PubMed:20479361,
FT ECO:0000269|PubMed:20880070}.
FT /FTId=VAR_023659.
FT VARIANT 381 381 L -> P (in PEOA3; dbSNP:rs111033577).
FT {ECO:0000269|PubMed:11431692,
FT ECO:0000269|PubMed:20479361}.
FT /FTId=VAR_023660.
FT VARIANT 391 391 R -> H (in PRLTS5; dbSNP:rs556445621).
FT {ECO:0000269|PubMed:25355836}.
FT /FTId=VAR_072657.
FT VARIANT 426 426 S -> N (in PEOA3).
FT {ECO:0000269|PubMed:18575922}.
FT /FTId=VAR_065112.
FT VARIANT 427 427 E -> G (in dbSNP:rs11542126).
FT /FTId=VAR_051267.
FT VARIANT 441 441 W -> G (in PRLTS5; dbSNP:rs672601361).
FT {ECO:0000269|PubMed:25355836}.
FT /FTId=VAR_072658.
FT VARIANT 456 456 L -> V (in MTDPS7; infantile
FT spinocerebellar ataxia phenotype;
FT dbSNP:rs386834145).
FT {ECO:0000269|PubMed:22353293}.
FT /FTId=VAR_067722.
FT VARIANT 457 457 T -> I (in MTDPS7; affects helicase
FT activity; dbSNP:rs80356544).
FT {ECO:0000269|PubMed:17722119}.
FT /FTId=VAR_039045.
FT VARIANT 458 458 Q -> H (in PEOA3).
FT {ECO:0000269|PubMed:20479361}.
FT /FTId=VAR_065113.
FT VARIANT 460 460 A -> P (in PEOA3).
FT {ECO:0000269|PubMed:20479361}.
FT /FTId=VAR_065114.
FT VARIANT 474 474 W -> C (in PEOA3; dbSNP:rs111033574).
FT {ECO:0000269|PubMed:11431692}.
FT /FTId=VAR_023661.
FT VARIANT 474 474 W -> S (in PEOA3; dbSNP:rs11542127).
FT {ECO:0000269|PubMed:18575922}.
FT /FTId=VAR_065115.
FT VARIANT 475 475 A -> D (in PEOA3).
FT {ECO:0000269|PubMed:20479361}.
FT /FTId=VAR_065116.
FT VARIANT 475 475 A -> P (in PEOA3; dbSNP:rs111033572).
FT {ECO:0000269|PubMed:11431692}.
FT /FTId=VAR_023662.
FT VARIANT 478 478 F -> I (in PEOA3).
FT {ECO:0000269|PubMed:18575922}.
FT /FTId=VAR_065117.
FT VARIANT 479 479 E -> K (in PEOA3).
FT {ECO:0000269|PubMed:18575922,
FT ECO:0000269|PubMed:20479361}.
FT /FTId=VAR_065118.
FT VARIANT 507 507 V -> I (in PRLTS5; dbSNP:rs369588002).
FT {ECO:0000269|PubMed:25355836}.
FT /FTId=VAR_072659.
FT VARIANT 508 508 Y -> C (in MTDPS7; dbSNP:rs80356540).
FT {ECO:0000269|PubMed:16135556,
FT ECO:0000269|PubMed:17921179}.
FT /FTId=VAR_043797.
FT VARIANT 585 585 N -> S (in PRLTS5; dbSNP:rs672601360).
FT {ECO:0000269|PubMed:25355836}.
FT /FTId=VAR_072660.
FT VARIANT 634 634 N -> K (in dbSNP:rs62626293).
FT {ECO:0000269|Ref.4}.
FT /FTId=VAR_062269.
FT CONFLICT 351 351 N -> D (in Ref. 3; CAE45905).
FT {ECO:0000305}.
CC --------------------------------------------------------------------------
CC The following FT lines are automated annotations from the MyHits database.
CC --------------------------------------------------------------------------
FT MYHIT 384 635 iprf:SF4_HELICASE [T]
SQ SEQUENCE 684 AA; 77154 MW; 58186043888234DA CRC64;
MWVLLRSGYP LRILLPLRGE WMGRRGLPRN LAPGPPRRRY RKETLQALDM PVLPVTATEI
RQYLRGHGIP FQDGHSCLRA LSPFAESSQL KGQTGVTTSF SLFIDKTTGH FLCMTSLAEG
SWEDFQASVE GRGDGAREGF LLSKAPEFED SEEVRRIWNR AIPLWELPDQ EEVQLADTMF
GLTKVTDDTL KRFSVRYLRP ARSLVFPWFS PGGSGLRGLK LLEAKCQGDG VSYEETTIPR
PSAYHNLFGL PLISRRDAEV VLTSRELDSL ALNQSTGLPT LTLPRGTTCL PPALLPYLEQ
FRRIVFWLGD DLRSWEAAKL FARKLNPKRC FLVRPGDQQP RPLEALNGGF NLSRILRTAL
PAWHKSIVSF RQLREEVLGE LSNVEQAAGL RWSRFPDLNR ILKGHRKGEL TVFTGPTGSG
KTTFISEYAL DLCSQGVNTL WGSFEISNVR LARVMLTQFA EGRLEDQLDK YDHWADRFED
LPLYFMTFHG QQSIRTVIDT MQHAVYVYDI CHVIIDNLQF MMGHEQLSTD RIAAQDYIIG
VFRKFATDNN CHVTLVIHPR KEDDDKELQT ASIFGSAKAS QEADNVLILQ DRKLVTGPGK
RYLQVSKNRF DGDVGVFPLE FNKNSLTFSI PPKNKARLKK IKDDTGPVAK KPSSGKKGAT
TQNSEICSGQ APTPDQPDTS KRSK
//
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