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Homo sapiens xeroderma pigmentosum, complementation group A (XPA), transcript variant 1, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_000380 Homo sapiens xeroderma pigmentosum, complementation group A (XPA), transcript variant 1, mRNA. GenEZ ORF Cloning On-demand $449.00 14

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RefSeq Version NM_000380.3, 156564394
Length 1491 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens xeroderma pigmentosum, complementation group A (XPA), transcript variant 1, mRNA.
Product DNA repair protein complementing XP-A cells
Comment

Summary: This gene encodes a zinc finger protein involved in DNA excision repair. The encoded protein is part of the NER (nucleotide excision repair) complext which is responsible for repair of UV radiation-induced photoproducts and DNA adducts induced by chemical carcinogens. Mutations in this gene are associated with xeroderma pigmentosum complementation group A. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Mar 2009].


Transcript Variant: This variant (1) encodes a functional protein.

RefSeq NP_000371.1
CDS 118..939
Misc Feature(1)127..408
Misc Feature(2)127..408
Misc Feature(3)193..258
Misc Feature(4)415..516
Misc Feature(5)430..936
Misc Feature(6)517..675
Misc Feature(7)634..636
Misc Feature(8)634..636
Misc Feature(9)634..636
Misc Feature(10)703..705
Misc Feature(11)703..705
Misc Feature(12)703..705
Exon (1)1..289
Gene:XPA
Gene Synonym:XP1; XPAC
Exon (2)290..400
Gene:XPA
Gene Synonym:XP1; XPAC
Exon (3)401..506
Gene:XPA
Gene Synonym:XP1; XPAC
Exon (4)507..672
Gene:XPA
Gene Synonym:XP1; XPAC
Exon (5)673..790
Gene:XPA
Gene Synonym:XP1; XPAC
Exon (6)791..1469
Gene:XPA
Gene Synonym:XP1; XPAC
Translation MAAADGALPEAAALEQPAELPASVRASIERKRQRALMLRQARLAARPYSATAAAATGGMA NVKAAPKIIDTGGGFILEEEEEEEQKIGKVVHQPGPVMEFDYVICEECGKEFMDSYLMNH FDLPTCDNCRDADDKHKLITKTEAKQEYLLKDCDLEKREPPLKFIVKKNPHHSQWGDMKL YLKLQIVKRSLEVWGSQEALEEAKEVRQENREKMKQKKFDKKVKELRRAVRSSVWKRETI VHQHEYGPEENLEDDMYRKTCTMCGHELTYEKM
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Position Chain Variation Link
complement(44)-dbSNP:
complement(44)-c, adbSNP:3176631
complement(113)-g, adbSNP:202078294
complement(114)-g, adbSNP:1800975
complement(133)-t, cdbSNP:200218050
complement(153)-c, adbSNP:113710532
complement(188)-t, adbSNP:199616261
complement(190)-t, gdbSNP:35038071
complement(351)-dbSNP:
complement(351)-t, cdbSNP:144543144
complement(367..369)-, gaadbSNP:3176652
complement(406)-dbSNP:
complement(406)-t, cdbSNP:10983315
complement(423)-g, adbSNP:199710643
complement(432)-g, adbSNP:138536873
complement(440)-t, gdbSNP:104894131
complement(465)-t, adbSNP:104894134
complement(614)-dbSNP:
complement(614)-g, adbSNP:143374902
complement(722)-dbSNP:
complement(722)-t, gdbSNP:200956475
complement(736)-t, cdbSNP:104894133
complement(748)-g, adbSNP:149226993
complement(749)-t, cdbSNP:138259553
complement(765)-g, cdbSNP:75031098
complement(783)-t, cdbSNP:150468671
complement(795..796)-dbSNP:
complement(795..796)-, gdbSNP:71974484
complement(796..797)-, gdbSNP:35241125
complement(799)-t, cdbSNP:104894132
complement(800)-g, adbSNP:1805160
complement(801)-g, adbSNP:16923331
complement(817)-t, gdbSNP:3176749
complement(848)-t, cdbSNP:144725456
complement(871)-g, cdbSNP:3176750
complement(883)-t, cdbSNP:57519506
complement(885)-g, cdbSNP:199756325
complement(889)-g, adbSNP:188860873
complement(894)-g, cdbSNP:200584154
complement(897)-t, adbSNP:201809387
complement(945)-t, adbSNP:185670485
complement(1142)-g, cdbSNP:3176751
complement(1173)-c, adbSNP:3176752
complement(1217)-t, cdbSNP:3176753
complement(1259)-t, adbSNP:180913672
complement(1335)-c, adbSNP:151234336
complement(1367)-g, adbSNP:143474170
complement(1403)-g, adbSNP:3176754
complement(1462)-t, cdbSNP:188107493
Gene SymbolXPA
Gene SynonymXP1; XPAC
Chromosome9
Locus Map9q22.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_000380 Homo sapiens xeroderma pigmentosum, complementation group A (XPA), transcript variant 1, mRNA. On-demand $449.00 14
Title Poly(ADP-ribose) contributes to an association between poly(ADP-ribose) polymerase-1 and xeroderma pigmentosum complementation group A in nucleotide excision repair .
Author King,B.S., Cooper,K.L., Liu,K.J. and Hudson,L.G.
Journal J. Biol. Chem. 287 (47), 39824-39833 (2012)
Title HIF1alpha regulated expression of XPA contributes to cisplatin resistance in lung cancer .
Author Liu,Y., Bernauer,A.M., Yingling,C.M. and Belinsky,S.A.
Journal Carcinogenesis 33 (6), 1187-1192 (2012)
Title XPA A23G polymorphism and susceptibility to cancer: a meta-analysis .
Author Liu,J., Zhang,Z., Cao,X.L., Lei,D.P., Wang,Z.Q., Jin,T. and Pan,X.L.
Journal Mol. Biol. Rep. 39 (6), 6791-6799 (2012)
Title [The relationship between polymorphism of genes XPA, XPC, XPD, XRCC1 and susceptibility to acute lymphoblastic leukemia] .
Author Tang,F.F., Ouyang,J., Xu,Y., Zhou,R.F., Zhou,M., Chen,B., Zhang,Q.G., Feng,X., Zhang,X., Chen,M.M., Zeng,Y. and Xu,Y.Y.
Journal Zhonghua Nei Ke Za Zhi 50 (10), 859-862 (2011)
Title XPA-mediated regulation of global nucleotide excision repair by ATR Is p53-dependent and occurs primarily in S-phase .
Author Li,Z., Musich,P.R., Serrano,M.A., Dong,Z. and Zou,Y.
Journal PLoS ONE 6 (12), E28326 (2011)
Title Mutational analysis of the structure and function of the xeroderma pigmentosum group A complementing protein. Identification of essential domains for nuclear localization and DNA excision repair .
Author Miyamoto,I., Miura,N., Niwa,H., Miyazaki,J. and Tanaka,K.
Journal J. Biol. Chem. 267 (17), 12182-12187 (1992)
Title Identification of splicing mutations of the last nucleotides of exons, a nonsense mutation, and a missense mutation of the XPAC gene as causes of group A xeroderma pigmentosum .
Author Satokata,I., Tanaka,K., Yuba,S. and Okada,Y.
Journal Mutat. Res. 273 (2), 203-212 (1992)
Title Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene .
Author Satokata,I., Tanaka,K. and Okada,Y.
Journal Hum. Genet. 88 (6), 603-607 (1992)
Title Identification and characterization of xpac protein, the gene product of the human XPAC (xeroderma pigmentosum group A complementing) gene .
Author Miura,N., Miyamoto,I., Asahina,H., Satokata,I., Tanaka,K. and Okada,Y.
Journal J. Biol. Chem. 266 (29), 19786-19789 (1991)
Title Characterization of a splicing mutation in group A xeroderma pigmentosum .
Author Satokata,I., Tanaka,K., Miura,N., Miyamoto,I., Satoh,Y., Kondo,S. and Okada,Y.
Journal Proc. Natl. Acad. Sci. U.S.A. 87 (24), 9908-9912 (1990)


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