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

Clone ID Definition Vector Stock Status Price *Turnaround time Order
OHu18921 Homo sapiens xeroderma pigmentosum, complementation group A (XPA), transcript variant 1, mRNA. pcDNA3.1+-DYK In-stock $99.00 5-7
OHu18921C Homo sapiens xeroderma pigmentosum, complementation group A (XPA), transcript variant 1, mRNA. Customized vector In-stock $149.00 5-7

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Mutation services

Sequence Information ORF Nucleotide Sequence
Protein sequence
Vector pcDNA3.1+-DYK or customized vector
Clone information Clone Map
Tag on pcDNA3.1+-DYK N terminal DYKDDDK tags
ORF Insert Method CloneEZ® Seamless cloning technology
RefSeq Version NM_000380.3, 156564394
Length 822 bp
Update Date 03-MAY-2014
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

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)121..123
Misc Feature(2)121..123
Misc Feature(3)127..408
Misc Feature(4)193..258
Misc Feature(5)415..516
Misc Feature(6)430..936
Misc Feature(7)517..675
Misc Feature(8)634..636
Misc Feature(9)634..636
Misc Feature(10)634..636
Misc Feature(11)703..705
Misc Feature(12)703..705
Misc Feature(13)703..705
Misc Feature(14)703..705
Exon (1)1..289
Gene Synonym:XP1; XPAC
Exon (2)290..400
Gene Synonym:XP1; XPAC
Exon (3)401..506
Gene Synonym:XP1; XPAC
Exon (4)507..672
Gene Synonym:XP1; XPAC
Exon (5)673..790
Gene Synonym:XP1; XPAC
Exon (6)791..1469
Gene Synonym:XP1; XPAC
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Position Chain Variation Link
complement(30)-t, gdbSNP:371959589
44+a, cdbSNP:3176631
complement(113)-g, adbSNP:202078294
complement(114)-g, adbSNP:1800975
complement(129)-t, gdbSNP:377130468
complement(133)-t, cdbSNP:200218050
complement(153)-c, adbSNP:113710532
complement(188)-t, adbSNP:199616261
complement(190)-t, gdbSNP:35038071
complement(320)-g, adbSNP:368468515
complement(351)-t, cdbSNP:144543144
355..357+, gaadbSNP:3176652
complement(406)-t, cdbSNP:10983315
complement(423)-g, adbSNP:199710643
complement(432)-g, adbSNP:138536873
complement(433)-t, cdbSNP:372447411
440+g, tdbSNP:104894131
465+a, tdbSNP:104894134
complement(520)-t, cdbSNP:370356656
complement(558)-t, gdbSNP:376040996
complement(614)-g, adbSNP:143374902
complement(624)-g, adbSNP:374056889
complement(660)-g, adbSNP:371106583
complement(669)-t, cdbSNP:376828011
complement(722)-t, gdbSNP:200956475
736+c, tdbSNP:104894133
complement(748)-g, adbSNP:149226993
complement(749)-t, cdbSNP:138259553
complement(765)-g, cdbSNP:75031098
complement(783)-t, cdbSNP:150468671
complement(796..797)-, gdbSNP:35241125
799+c, tdbSNP:104894132
800+a, gdbSNP:1805160
801+a, gdbSNP:16923331
complement(813)-g, adbSNP:368677003
complement(817)-t, gdbSNP:3176749
complement(817)-c, adbSNP:386580489
complement(834)-t, cdbSNP:373644319
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(906)-t, cdbSNP:371262559
complement(944)-g, adbSNP:367850465
complement(945)-t, adbSNP:185670485
complement(965)-g, adbSNP:374720100
complement(977)-g, adbSNP:376885568
1142+c, gdbSNP:3176751
1173+a, cdbSNP:3176752
complement(1217)-t, cdbSNP:3176753
complement(1259)-t, adbSNP:180913672
complement(1335)-c, adbSNP:151234336
complement(1367)-g, adbSNP:143474170
1403+a, gdbSNP:3176754
complement(1462)-t, cdbSNP:188107493
Gene SymbolXPA
Gene SynonymXP1; XPAC
Locus Map9q22.3
Title Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients .
Author Amr K, Messaoud O, El Darouti M, Abdelhak S and El-Kamah G.
Journal Gene 533 (1), 52-56 (2014)
Title Melphalan-induced apoptosis of EBV-transformed B cells through upregulation of TAp73 and XAF1 and nuclear import of XPA .
Author Park GB, Kim YS, Kim D, Kim S, Lee HK, Cho DH, Lee WJ and Hur DY.
Journal J. Immunol. 191 (12), 6281-6291 (2013)
Title UV-induced nuclear import of XPA is mediated by importin-alpha4 in an ATR-dependent manner .
Author Li Z, Musich PR, Cartwright BM, Wang H and Zou Y.
Journal PLoS ONE 8 (7), E68297 (2013)
Title Influence of polymorphisms in ERCC5, XPA and MTR DNA repair and synthesis genes in B-cell lymphoma risk. A case-control study in Spanish population .
Author Ruiz-Cosano J, Torres-Moreno D and Conesa-Zamora P.
Journal J BUON 18 (2), 486-490 (2013)
Title Structural and sequence similarities of hydra xeroderma pigmentosum .
Author Barve A, Ghaskadbi S and Ghaskadbi S.
Journal Biomed Res Int 2013, 854745 (2013)
Title Xeroderma Pigmentosum .
Author Kraemer,K.H. and DiGiovanna,J.J.
Journal (in) Pagon RA, Adam MP, Ardinger HH, Bird TD, Dolan CR, Fong CT, Smith RJH and Stephens K (Eds.); GENEREVIEWS(R); (1993)
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 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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