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Protein FULL name: aprataxin isoform b [Mus musculus].
Aptx (Mus musculus) is product of expression of
Aptx
gene.
FUNCTION: DNA-binding protein involved in single-strand DNA break
repair, double-strand DNA break repair and base excision repair.
Resolves abortive DNA ligation intermediates formed either at base
excision sites, or when DNA ligases attempt to repair non-
ligatable breaks induced by reactive oxygen species. Catalyzes the
release of adenylate groups covalently linked to 5'-phosphate
termini, resulting in the production of 5'-phosphate termini that
can be efficiently rejoined. Also able to hydrolyze adenosine 5'-
monophosphoramidate (AMP-NH2) and diadenosine tetraphosphate
(AppppA), but with lower catalytic activity.
SUBUNIT: Interacts with single-strand break repair proteins XRCC1,
XRCC4, ADPRT and p53/TP53. Interacts with NCL (By similarity).
SUBCELLULAR LOCATION: Nucleus, nucleoplasm (By similarity).
Nucleus, nucleolus (By similarity). Note=Upon genotoxic stress,
colocalizes with XRCC1 at sites of DNA damage. Interaction with
NCL is required for nucleolar localization (By similarity).
TISSUE SPECIFICITY: Widely expressed. Expressed in heart, liver,
kidney, spleen, lung, muscle, brain stem, spinal cord, cerebellum
and brain.
DOMAIN: The histidine triad, also called HIT motif, forms part of
the binding loop for the alpha-phosphate of purine mononucleotide
(By similarity).
DOMAIN: The FHA-like domain mediates interaction with NCL; XRCC1
and XRCC4 (By similarity).
DOMAIN: The HIT domain is required for enzymatic activity (By
similarity).
DOMAIN: The C2H2-type zinc finger mediates DNA-binding (By
similarity).
SIMILARITY: Contains 1 C2H2-type zinc finger.
SIMILARITY: Contains 1 FHA-like domain.
SIMILARITY: Contains 1 HIT domain.
SEQUENCE CAUTION:
Sequence=AAP86334.1; Type=Erroneous initiation;
Links to other databases:
Protein sequence:
MRVCWLVRQDSRHQRIKLPHLEAVVIGRSPETKITDKKCSRQQVQLKAEC
NKGYVKVQQMGVNPTSIDSGVIGKDQEKKLLPGQVLHMVNGLYPYIVEFE
EVAESPNLTQRKRKRSDCDSEEMEAESGTGLAPGSSPSQCSVSPKKDKNG
ATKKESLGHWSQGLKMSMKDPKMQVYKDDQVVVIKDKYPKARHHWLVLPW
ASISSLKVVTSEHLELLKHMHAVGEKVIADFAGSSKLRFRLGYHAIPSMS
HVHLHVISQDFDSPCLKNKKHWNSFNTEYFLESQAVIKMVQEAGRVTVKD
GTCELLKLPLRCHECQQLLPSIPQLKEHLRKHWGG
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Aptx (Mus musculus) is able to recognize following damages:
Aptx (Mus musculus) belongs to following protein families:
References:
Title
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Authors
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Journal
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The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin.
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Moreira MC, Barbot C, Tachi N, Kozuka N, Uchida E, Gibson T, Mendonca P, Costa M, Barros J, Yanagisawa T, Watanabe M, Ikeda Y, Aoki M, Nagata T, Coutinho P, Sequeiros J, Koenig M
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Nat Genet
Oct. 1, 2001
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The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
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Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J
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Genome Res
Oct. 1, 2004
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The transcriptional landscape of the mammalian genome.
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Carninci P, Kasukawa T, Katayama S, Gough J, Frith MC, Maeda N, Oyama R, Ravasi T, Lenhard B, Wells C, Kodzius R, Shimokawa K, Bajic VB, Brenner SE, Batalov S, Forrest AR, Zavolan M, Davis MJ, Wilming LG, Aidinis V, Allen JE, Ambesi-Impiombato A, Apweiler R, Aturaliya RN, Bailey TL, Bansal M, Baxter L, Beisel KW, Bersano T, Bono H, Chalk AM, Chiu KP, Choudhary V, Christoffels A, Clutterbuck DR, Crowe ML, Dalla E, Dalrymple BP, de Bono B, Della Gatta G, di Bernardo D, Down T, Engstrom P, Fagiolini M, Faulkner G, Fletcher CF, Fukushima T, Furuno M, Futaki S, Gariboldi M, Georgii-Hemming P, Gingeras TR, Gojobori T, Green RE, Gustincich S, Harbers M, Hayashi Y, Hensch TK, 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 SP, Kruger A, Kummerfeld SK, Kurochkin IV, Lareau LF, 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 KC, Pavan WJ, Pavesi G, Pesole G, Petrovsky N, Piazza S, Reed J, Reid JF, Ring BZ, Ringwald M, Rost B, Ruan Y, Salzberg SL, Sandelin A, Schneider C, Schonbach C, Sekiguchi K, Semple CA, 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 SL, Tang S, Taylor MS, Tegner J, Teichmann SA, Ueda HR, van Nimwegen E, Verardo R, Wei CL, Yagi K, Yamanishi H, Zabarovsky E, Zhu S, Zimmer A, Hide W, Bult C, Grimmond SM, Teasdale RD, Liu ET, Brusic V, Quackenbush J, Wahlestedt C, Mattick JS, Hume DA, 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
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Science
Sept. 2, 2005
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The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates.
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Ahel I, Rass U, El-Khamisy SF, Katyal S, Clements PM, McKinnon PJ, Caldecott KW, West SC
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Nature
Oct. 12, 2006
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Last modification of this entry: Oct. 6, 2010.
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