APTX CLIA Kit for Human(Homo sapiens) | EIAab.comAPTX CLIA Kit for Human(Homo sapiens)

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APTX (Gene name),

Aprataxin (Protein name ), APTX_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

APTX(AXA1);

Protein name:

Aprataxin;

Alternative:

Forkhead-associated domain histidine triad-like protein(FHA-HIT);

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Interacts with single-strand break repair proteins XRCC1, XRCC4, ADPRT and p53/TP53. Interacts with NCL. Interacts (via FHA-like domain) with MDC1 (phosphorylated).

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-NH(2)) and diadenosine tetraphosphate (AppppA), but with lower catalytic activity.

Subcellular Location:

Nucleus nucleoplasm Nucleus nucleolus Upon genotoxic stress, colocalizes with XRCC1 at sites of DNA damage. Colocalizes with MDC1 at sites of DNA double-strand breaks. Interaction with NCL is required for nucleolar localization.

Protein Attributes:

Sequence length:

356

Sequence:

50:

100:

150:

200:

250:

300:

350:

356:

RKHWTQ

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

UniGene:

Hs.20158

String:

Q7Z2E3

SMR:

Q7Z2E3

MIM:

208920

KEGG:

hsa:54840

Uniprot:

Q7Z2E3

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ELISA Kit for Human Aprataxin

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E9623p

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ELISA Kit for Human Aprataxin

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E9623d

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ELISA Kit for Human Aprataxin

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E9623h

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ELISA Kit for Human Aprataxin

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E9623r

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ELISA Kit for Human Aprataxin

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E9623m

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ELISA Kit for Human Aprataxin

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E9623b

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ELISA Kit for Human Aprataxin

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E9623c

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96T

CLIA Kit for Human Aprataxin

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U9623d

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96T

CLIA Kit for Human Aprataxin

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U9623m

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96T

CLIA Kit for Human Aprataxin

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U9623b

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96T

CLIA Kit for Human Aprataxin

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U9623r

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CLIA Kit for Human Aprataxin

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U9623c

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96T

CLIA Kit for Human Aprataxin

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U9623p

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96T

CLIA Kit for Human Aprataxin

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U9623h

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Polyclonal Antibody for Human Aprataxin

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P9623Rb-h

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40ug/0.2ml

Polyclonal Antibody for Human Aprataxin

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P9623Rb-r

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Polyclonal Antibody for Human Aprataxin

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P9623Rb-m

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Monoclonal Antibody for Human Aprataxin

Protein for Human Aprataxin

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

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Linearity

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References

1.

"Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia."
Hirano M. , Nishiwaki T. , Kariya S. , Furiya Y. , Kawahara M. , Ueno S.
Neurosci. Lett.366:120-125(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 7; 12 AND 13);ALTERNATIVE SPLICING;SUBCELLULAR LOCATION
2.

"Identification of FHA-HIT as a novel nuclear protein involved in cell-cycle regulation."
Huang C.-H.
Submitted (2001-06) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
3.

Chen Y. , Huang C.-H.
Submitted (2002-12) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1; 2; 3; 4; 5; 6; 7; 8 AND 10)
tissue: Hypothalamus.
tissue: Kidney.
tissue: Lung adenocarcinoma.
tissue: Lymphoma.
tissue: Melanoma.
tissue: Muscle.
tissue: Retinoblastoma.
tissue: Skin.
tissue: Testis.
4.

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 11)
tissue: Colon.
5.

"The full-ORF clone resource of the German cDNA consortium."
Bechtel S. , Rosenfelder H. , Duda A. , Schmidt C.P. , Ernst U. , Wellenreuther R. , Mehrle A. , Schuster C. , Bahr A. , Bloecker H. , Heubner D. , Hoerlein A. , Michel G. , Wedler H. , Koehrer K. , Ottenwaelder B. , Poustka A. , Wiemann S. , more...
BMC Genomics8:399-399(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 9)
tissue: Endometrium.
6.

"DNA sequence and analysis of human chromosome 9."
Humphray S.J. , Oliver K. , Hunt A.R. , Plumb R.W. , Loveland J.E. , Howe K.L. , Andrews T.D. , Searle S. , Hunt S.E. , Scott C.E. , Jones M.C. , Ainscough R. , Almeida J.P. , Ambrose K.D. , Ashwell R.I.S. , Babbage A.K. , Babbage S. , Bagguley C.L. , more...
Nature429:369-374(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
7.

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , more...
Submitted (2005-09) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
8.

"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]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2; 4 AND 7)
tissue: Brain.
tissue: Lung.
tissue: Lymph.
9.

"Mutations in the APTX gene."
Hellenbroich Y. , Habeck M.
Submitted (2003-06) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-261 (ISOFORMS 2; 4; 5 AND 7)
tissue: Brain.
10.

"Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene."
Date H. , Onodera O. , Tanaka H. , Iwabuchi K. , Uekawa K. , Igarashi S. , Koike R. , Hiroi T. , Yuasa T. , Awaya Y. , Sakai T. , Takahashi T. , Nagatomo H. , Sekijima Y. , Kawachi I. , Takiyama Y. , Nishizawa M. , Fukuhara N. , more...
Nat. Genet.29:184-188(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: TISSUE SPECIFICITY;VARIANTS AOA LEU-220 AND GLY-277
11.

"The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin."
Moreira M.-C. , 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.
Nat. Genet.29:189-193(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ALTERNATIVE SPLICING;TISSUE SPECIFICITY;VARIANTS AOA HIS-213 AND LEU-220
12.

"Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein."
Sano Y. , Date H. , Igarashi S. , Onodera O. , Oyake M. , Takahashi T. , Hayashi S. , Morimatsu M. , Takahashi H. , Makifuchi T. , Fukuhara N. , Tsuji S.
Ann. Neurol.55:241-249(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;SUBCELLULAR LOCATION;TISSUE SPECIFICITY;INTERACTION WITH XRCC1
13.

"The ataxia-oculomotor apraxia 1 gene product has a role distinct from ATM and interacts with the DNA strand break repair proteins XRCC1 and XRCC4."
Clements P.M. , Breslin C. , Deeks E.D. , Byrd P.J. , Ju L. , Bieganowski P. , Brenner C. , Moreira M.-C. , Taylor A.M.R. , Caldecott K.W.
DNA Repair3:1493-1502(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH XRCC1 AND XRCC4;SUBCELLULAR LOCATION;MUTAGENESIS OF ARG-43
14.

"Aprataxin, a novel protein that protects against genotoxic stress."
Gueven N. , Becherel O.J. , Kijas A.W. , Chen P. , Howe O. , Rudolph J.H. , Gatti R. , Date H. , Onodera O. , Taucher-Scholz G. , Lavin M.F.
Hum. Mol. Genet.13:1081-1093(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;SUBCELLULAR LOCATION;INTERACTION WITH XRCC1; ADPRT; TP53 AND NCL
15.

"Nucleolar localization of aprataxin is dependent on interaction with nucleolin and on active ribosomal DNA transcription."
Becherel O.J. , Gueven N. , Birrell G.W. , Schreiber V. , Suraweera A. , Jakob B. , Taucher-Scholz G. , Lavin M.F.
Hum. Mol. Genet.15:2239-2249(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBCELLULAR LOCATION;INTERACTION WITH XRCC1 AND NCL
16.

"Aprataxin forms a discrete branch in the HIT (histidine triad) superfamily of proteins with both DNA/RNA binding and nucleotide hydrolase activities."
Kijas A.W. , Harris J.L. , Harris J.M. , Lavin M.F.
J. Biol. Chem.281:13939-13948(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;DNA-BINDING;CHARACTERIZATION OF VARIANT GLY-277
17.

"The neurodegenerative disease protein aprataxin resolves abortive DNA ligation intermediates."
Ahel I. , Rass U. , El-Khamisy S.F. , Katyal S. , Clements P.M. , McKinnon P.J. , Caldecott K.W. , West S.C.
Nature443:713-716(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;MUTAGENESIS OF HIS-274
18.

"Actions of aprataxin in multiple DNA repair pathways."
Rass U. , Ahel I. , West S.C.
J. Biol. Chem.282:9469-9474(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;MUTAGENESIS OF HIS-274; CYS-333 AND CYS-336
19.

"System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation."
Rigbolt K.T. , Prokhorova T.A. , Akimov V. , Henningsen J. , Johansen P.T. , Kratchmarova I. , Kassem M. , Mann M. , Olsen J.V. , Blagoev B.
Sci. Signal.4:RS3-RS3(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-132;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
20.

"CK2 phosphorylation-dependent interaction between aprataxin and MDC1 in the DNA damage response."
Becherel O.J. , Jakob B. , Cherry A.L. , Gueven N. , Fusser M. , Kijas A.W. , Peng C. , Katyal S. , McKinnon P.J. , Chen J. , Epe B. , Smerdon S.J. , Taucher-Scholz G. , Lavin M.F.
Nucleic Acids Res.38:1489-1503(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (1.65 ANGSTROMS) OF 15-116;SUBCELLULAR LOCATION;INTERACTION WITH MDC1;MUTAGENESIS OF ARG-43 AND LYS-52
21.

"Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations."
Shimazaki H. , Takiyama Y. , Sakoe K. , Ikeguchi K. , Niijima K. , Kaneko J. , Namekawa M. , Ogawa T. , Date H. , Tsuji S. , Nakano I. , Nishizawa M.
Neurology59:590-595(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AOA ARG-215
22.

"Phenotypic variability of aprataxin gene mutations."
Tranchant C. , Fleury M. , Moreira M.-C. , Koenig M. , Warter J.-M.
Neurology60:868-870(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AOA GLN-211
23.

"Cerebellar ataxia with oculomotor apRAxia type 1: clinical and genetic studies."
Le Ber I. , Moreira M.-C. , Rivaud-Pechoux S. , Chamayou C. , Ochsner F. , Kuntzer T. , Tardieu M. , Saied G. , Habert M.-O. , Demarquay G. , Tannier C. , Beis J.-M. , Brice A. , Koenig M. , Duerr A.
Brain126:2761-2772(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS AOA VAL-212; GLY-277 AND ARG-293
24.

"Very late onset in ataxia oculomotor apraxia type I."
Criscuolo C. , Mancini P. , Menchise V. , Sacca F. , De Michele G. , Banfi S. , Filla A.
Ann. Neurol.57:777-777(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT AOA PRO-237
25.

"Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation."
Quinzii C.M. , Kattah A.G. , Naini A. , Akman H.O. , Mootha V.K. , DiMauro S. , Hirano M.
Neurology64:539-541(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN AOA

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