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Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) (ERCC1), transcript variant 2, mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_001983 Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) (ERCC1), transcript variant 2, mRNA. GenEZ ORF Cloning In-stock $348.00 $299.00 10

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RefSeq Version NM_001983.3, 260593722
Length 3400 bp
Structure linear
Update Date 21-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) (ERCC1), transcript variant 2, mRNA.
Product DNA excision repair protein ERCC-1 isoform 2
Comment

Summary: The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009].


Transcript Variant: This variant (2) represents the longest transcript and encodes isoform 2.


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.

RefSeq NP_001974.1
CDS 147..1040
Misc Feature(1)123..125
Misc Feature(2)195..215
Misc Feature(3)195..215
Misc Feature(4)441..776
Misc Feature(5)921..1010
Exon (1)1..139
Gene:ERCC1
Gene Synonym:COFS4; RAD10; UV20
Exon (2)140..251
Gene:ERCC1
Gene Synonym:COFS4; RAD10; UV20
Exon (3)252..467
Gene:ERCC1
Gene Synonym:COFS4; RAD10; UV20
Exon (4)468..571
Gene:ERCC1
Gene Synonym:COFS4; RAD10; UV20
Exon (5)572..671
Gene:ERCC1
Gene Synonym:COFS4; RAD10; UV20
Exon (6)672..748
Gene:ERCC1
Gene Synonym:COFS4; RAD10; UV20
Exon (7)749..848
Gene:ERCC1
Gene Synonym:COFS4; RAD10; UV20
Exon (8)849..920
Gene:ERCC1
Gene Synonym:COFS4; RAD10; UV20
Exon (9)921..989
Gene:ERCC1
Gene Synonym:COFS4; RAD10; UV20
Exon (10)990..3382
Gene:ERCC1
Gene Synonym:COFS4; RAD10; UV20
Translation MDPGKDKEGVPQPSGPPARKKFVIPLDEDEVPPGVAKPLFRSTQSLPTVDTSAQAAPQTY AEYAISQPLEGAGATCPTGSEPLAGETPNQALKPGAKSNSIIVSPRQRGNPVLKFVRNVP WEFGDVIPDYVLGQSTCALFLSLRYHNLHPDYIHGRLQSLGKNFALRVLLVQVDVKDPQQ ALKELAKMCILADCTLILAWSPEEAGRYLETYKAYEQKPADLLMEKLEQDFVSRVTECLT TVKSVNKTDSQTLLTTFGSLEQLIAASREDLALCPGLGPQKARRLFDVLHEPFLKVP
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Position Chain Variation Link
complement(20)-dbSNP:
complement(20)-t, cdbSNP:3212932
complement(42)-t, cdbSNP:3212933
complement(55)-t, cdbSNP:41540513
complement(128)-c, adbSNP:41559012
complement(145)-dbSNP:
complement(145)-t, gdbSNP:61758159
complement(163)-t, cdbSNP:145482678
complement(275)-dbSNP:
complement(275)-t, cdbSNP:199769934
complement(301)-g, adbSNP:149666093
complement(329)-g, adbSNP:139648033
complement(330)-t, cdbSNP:150584960
complement(337)-g, adbSNP:142631483
complement(351)-g, adbSNP:139307454
complement(371)-g, adbSNP:3212947
complement(376)-c, adbSNP:3188420
complement(419)-g, cdbSNP:201143699
complement(479)-dbSNP:
complement(479)-g, adbSNP:200767762
complement(492)-t, cdbSNP:200459924
complement(500)-t, cdbSNP:11615
complement(518)-g, adbSNP:181766045
complement(521)-g, adbSNP:112246053
complement(530)-g, adbSNP:139827427
complement(536)-g, adbSNP:56148539
complement(575)-dbSNP:
complement(575)-t, gdbSNP:138121582
complement(592)-t, cdbSNP:150489444
complement(613)-t, cdbSNP:201089019
complement(618)-t, cdbSNP:121913027
complement(741)-dbSNP:
complement(741)-t, cdbSNP:141811629
complement(752)-dbSNP:
complement(752)-g, adbSNP:147933188
complement(782)-g, adbSNP:200023670
complement(839)-g, cdbSNP:121913028
complement(840)-t, cdbSNP:146749606
complement(869)-dbSNP:
complement(869)-g, adbSNP:141279286
complement(905)-g, adbSNP:151164004
complement(928)-dbSNP:
complement(928)-t, gdbSNP:142079682
complement(938)-t, cdbSNP:3212976
complement(939)-t, cdbSNP:144868115
complement(940)-g, adbSNP:201384063
complement(941)-g, cdbSNP:144154880
complement(942)-g, adbSNP:3212977
complement(945)-g, adbSNP:146256515
complement(1033)-dbSNP:
complement(1033)-t, adbSNP:199908411
complement(1049)-g, cdbSNP:2229918
complement(1083)-t, cdbSNP:189503912
complement(1112)-g, cdbSNP:743571
complement(1124)-, gdbSNP:55776297
complement(1223)-g, adbSNP:118178942
complement(1237)-t, gdbSNP:3212986
complement(1295)-g, cdbSNP:199556175
complement(1296)-t, cdbSNP:35448603
complement(1371)-g, cdbSNP:201700017
complement(1374)-g, adbSNP:201278532
complement(1376)-g, adbSNP:143359960
complement(1405)-g, adbSNP:199701462
complement(1463..1464)-, gaadbSNP:200430601
complement(1481..1483)-, aagdbSNP:145007633
complement(1481)-, ttcdbSNP:3212987
complement(1483)-, aagdbSNP:35729377
complement(1490)-c, adbSNP:35452819
complement(1533)-g, adbSNP:201676132
complement(1537)-g, adbSNP:200817062
complement(1539)-t, cdbSNP:199559014
complement(1547)-g, adbSNP:200242647
complement(1548)-g, adbSNP:201295345
complement(1560)-c, adbSNP:139349157
complement(1567)-g, adbSNP:2336219
complement(1586)-g, adbSNP:149187783
complement(1630)-g, adbSNP:762562
complement(1632)-t, cdbSNP:112438131
complement(1649)-t, cdbSNP:140755881
complement(1654)-g, adbSNP:150941977
complement(1658)-g, cdbSNP:62109561
complement(1670)-t, cdbSNP:201152485
complement(1688)-g, cdbSNP:143986694
complement(1691)-g, adbSNP:140434179
complement(1715)-g, adbSNP:199895540
complement(1716)-t, cdbSNP:146750944
complement(1792)-g, adbSNP:143443617
complement(1799)-g, adbSNP:200618543
complement(1829)-t, cdbSNP:3212988
complement(1844)-g, adbSNP:148669652
complement(1859)-g, adbSNP:199589536
complement(1860)-t, cdbSNP:143986145
complement(1872)-g, adbSNP:150012612
complement(1889)-g, adbSNP:139303076
complement(1903)-t, cdbSNP:3212989
complement(1951)-g, adbSNP:200817376
complement(1961)-t, cdbSNP:142978273
complement(1971)-c, adbSNP:735482
complement(2062)-t, cdbSNP:147330482
complement(2074)-g, adbSNP:113047593
complement(2092)-t, cdbSNP:201059236
complement(2132)-g, adbSNP:77680493
complement(2165)-t, cdbSNP:148142467
complement(2225)-t, gdbSNP:143757857
complement(2285)-t, cdbSNP:149071715
complement(2300..2301)-, adbSNP:35218885
complement(2338)-t, cdbSNP:137924394
complement(2373)-t, cdbSNP:145278578
complement(2408)-t, cdbSNP:201322262
complement(2450)-g, adbSNP:140241488
complement(2471)-g, adbSNP:200375319
complement(2501)-g, cdbSNP:146656316
complement(2512)-t, cdbSNP:143485921
complement(2517)-g, adbSNP:140862830
complement(2537)-g, adbSNP:150994935
complement(2543)-t, c, adbSNP:113025996
complement(2642)-c, adbSNP:187794054
complement(2643)-t, adbSNP:2013521
complement(2644)-c, adbSNP:202063629
complement(2651)-c, adbSNP:77052728
complement(2653)-t, c, adbSNP:8103749
complement(2653)-, adbSNP:11314106
complement(2654..2655)-c, adbSNP:5828233
complement(2654)-c, adbSNP:28574980
complement(2655)-c, adbSNP:200025030
complement(2662)-c, adbSNP:75205129
complement(2663..2664)-, adbSNP:35708119
complement(2720)-c, adbSNP:183074620
complement(2916)-g, adbSNP:148038609
complement(2928)-t, cdbSNP:193096276
complement(2958)-t, adbSNP:143529478
complement(3070)-t, cdbSNP:117128015
complement(3076)-c, adbSNP:149272244
complement(3121)-t, cdbSNP:138557840
complement(3181)-t, cdbSNP:111448570
complement(3182)-g, adbSNP:188831361
complement(3301)-t, cdbSNP:1046282
complement(3342)-t, adbSNP:183371964
complement(3364)-g, adbSNP:73559395
Gene SymbolERCC1
Gene SynonymCOFS4; RAD10; UV20
Chromosome19
Locus Map19q13.32
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_001166049 Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) (ERCC1), transcript variant 3, mRNA. In-stock $348.00 $299.00 10
NM_001983 Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) (ERCC1), transcript variant 2, mRNA. In-stock $348.00 $299.00 10
NM_202001 Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) (ERCC1), transcript variant 1, mRNA. In-stock $418.00 $369.00 10
Title ERCC1 isoform expression and DNA repair in non-small-cell lung cancer .
Author Friboulet,L., Olaussen,K.A., Pignon,J.P., Shepherd,F.A., Tsao,M.S., Graziano,S., Kratzke,R., Douillard,J.Y., Seymour,L., Pirker,R., Filipits,M., Andre,F., Solary,E., Ponsonnailles,F., Robin,A., Stoclin,A., Dorvault,N., Commo,F., Adam,J., Vanhecke,E., Saulnier,P., Thomale,J., Le Chevalier,T., Dunant,A., Rousseau,V., Le Teuff,G., Brambilla,E. and Soria,J.C.
Journal N. Engl. J. Med. 368 (12), 1101-1110 (2013)
Title Prognostic significance of ERCC1, RRM1 and BRCA1 in surgically-treated patients with non-small cell lung cancer .
Author Pesta,M., Kulda,V., Fiala,O., Safranek,J., Topolcan,O., Krakorova,G., Cerny,R. and Pesek,M.
Journal Anticancer Res. 32 (11), 5003-5010 (2012)
Title Using protein microarray technology to screen anti-ERCC1 monoclonal antibodies for specificity and applications in pathology .
Author Ma,D., Baruch,D., Shu,Y., Yuan,K., Sun,Z., Ma,K., Hoang,T., Fu,W., Min,L., Lan,Z.S., Wang,F., Mull,L. and He,W.W.
Journal BMC Biotechnol. 12 (1), 88 (2012)
Title Association of four ERCC1 and ERCC2 SNPs with survival of bone tumour patients .
Author Hao,T., Feng,W., Zhang,J., Sun,Y.J. and Wang,G.
Journal Asian Pac. J. Cancer Prev. 13 (8), 3821-3824 (2012)
Title Conserved pattern of antisense overlapping transcription in the homologous human ERCC-1 and yeast RAD10 DNA repair gene regions .
Author van Duin,M., van Den Tol,J., Hoeijmakers,J.H., Bootsma,D., Rupp,I.P., Reynolds,P., Prakash,L. and Prakash,S.
Journal Mol. Cell. Biol. 9 (4), 1794-1798 (1989)
Title Evolution and mutagenesis of the mammalian excision repair gene ERCC-1 .
Author van Duin,M., van den Tol,J., Warmerdam,P., Odijk,H., Meijer,D., Westerveld,A., Bootsma,D. and Hoeijmakers,J.H.
Journal Nucleic Acids Res. 16 (12), 5305-5322 (1988)
Title Characterization of genes and proteins involved in excision repair of human cells .
Author Hoeijmakers,J.H.
Journal J. Cell Sci. Suppl. 6, 111-125 (1987)
Title Molecular characterization of the human excision repair gene ERCC-1: cDNA cloning and amino acid homology with the yeast DNA repair gene RAD10 .
Author van Duin,M., de Wit,J., Odijk,H., Westerveld,A., Yasui,A., Koken,M.H., Hoeijmakers,J.H. and Bootsma,D.
Journal Cell 44 (6), 913-923 (1986)
Title Identification of DNA repair genes in the human genome .
Author Hoeijmakers,J.H., van Duin,M., Westerveld,A., Yasui,A. and Bootsma,D.
Journal Cold Spring Harb. Symp. Quant. Biol. 51 (PT 1), 91-101 (1986)
Title Molecular cloning of a human DNA repair gene .
Author Westerveld,A., Hoeijmakers,J.H., van Duin,M., de Wit,J., Odijk,H., Pastink,A., Wood,R.D. and Bootsma,D.
Journal Nature 310 (5976), 425-429 (1984)


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