ERCC2 ELISA Kit for Human(Homo sapiens) | EIAab.comERCC2 ELISA Kit for Human(Homo sapiens)

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ERCC2 (Gene name),

TFIIH basal transcription factor complex helicase XPD subunit (Protein name ), ERCC2_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

ERCC2(XPD;XPDC);

Protein name:

TFIIH basal transcription factor complex helicase XPD subunit;

Alternative:

CXPD;Basic transcription factor 2 80 kDa subunit(BTF2 p80);DNA repair protein complementing XP-D cells;DNA excision repair protein ERCC-2;Xeroderma pigmentosum group D-complementing protein;TFIIH basal transcription factor complex 80 kDa subunit(TFIIH 80 kDa subunit;TFIIH p80);

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

One of the six subunits forming the core-TFIIH basal transcription factor which associates with the CAK complex composed of CDK7, CCNH/cyclin H and MNAT1 to form the TFIIH basal transcription factor. The interaction with GTF2H2 results in the stimulation of the 5'-->3' helicase activity. Component of the MMXD complex, which includes CIAO1, ERCC2, FAM96B, MMS19 and SLC25A5. Interacts with FAM196B; the interaction is direct. Interacts with ATF7IP. Interacts with Epstein-Barr virus EBNA2.

Function:

ATP-dependent 5'-3' DNA helicase, component of the core-TFIIH basal transcription factor. Involved in nucleotide excision repair (NER) of DNA by opening DNA around the damage, and in RNA transcription by RNA polymerase II by anchoring the CDK-activating kinase (CAK) complex, composed of CDK7, cyclin H and MAT1, to the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and could play a causative role in the generation of skin cancers.

Subcellular Location:

Nucleus Cytoplasm cytoskeleton spindle

Protein Attributes:

Sequence length:

760

Sequence:

50:

100:

150:

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250:

300:

350:

400:

450:

500:

550:

600:

650:

700:

750:

760:

KRIEQIAQQL |

3D Structure:

N/A

Predicted Eptitope:

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Vaild Sequence:

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Related Databases

UniGene:

Hs.487294

MIM:

126340

STRING:

9606.ENSP00000375809

String:

P18074

Pfam:

PF06733

SMR:

P18074

KEGG:

hsa:2068

Uniprot:

P18074

FOR

ELISA Kit for Human TFIIH basal transcription factor complex helicase XPD subunit

CLIA Kit for Human TFIIH basal transcription factor complex helicase XPD subunit

Polyclonal Antibody for Human TFIIH basal transcription factor complex helicase XPD subunit

Monoclonal Antibody for Human TFIIH basal transcription factor complex helicase XPD subunit

Protein for Human TFIIH basal transcription factor complex helicase XPD subunit

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

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

Linearity

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

References

1.

"ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3."
Weber C.A. , Salazar E.P. , Stewart S.A. , Thompson L.H.
EMBO J.9:1437-1447(1990) [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] (ISOFORM 1)
tissue: Fibroblast.
2.

"Sequence analysis of the ERCC2 gene regions in human, mouse, and hamster reveals three linked genes."
Lamerdin J.E. , Stilwagen S.A. , Ramirez M.H. , Stubbs L. , Carrano A.V.
Genomics34:399-409(1996) [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 [GENOMIC DNA]
tissue: Fibroblast.
3.

NIEHS SNPs program
Submitted (2002-03) 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 [GENOMIC DNA];VARIANTS ASN-312 AND GLN-751
4.

"Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
Kalnine N. , Chen X. , Rolfs A. , Halleck A. , Hines L. , Eisenstein S. , Koundinya M. , Raphael J. , Moreira D. , Kelley T. , LaBaer J. , Lin Y. , Phelan M. , Farmer A.
Submitted (2003-05) 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 MRNA] (ISOFORM 2)
5.

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 (2005-07) 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];VARIANT GLN-751
6.

"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] (ISOFORM 1);VARIANT GLN-751
tissue: Testis.
7.

"Correction of Xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair gene."
Fletjer W.L. , McDaniel L.D. , Johns D. , Friedberg E.C. , Schultz R.A.
Proc. Natl. Acad. Sci. U.S.A.89:261-265(1992) [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: CHARACTERIZATION
8.

"Human Xeroderma pigmentosum group D gene encodes a DNA helicase."
Sung P. , Bailly V. , Weber C.A. , Thompson L.H. , Prakash L. , Prakash S.
Nature365:852-855(1993) [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
9.

"The 62- and 80-kDa subunits of transcription factor IIH mediate the interaction with Epstein-Barr virus nuclear protein 2."
Tong X. , Drapkin R. , Reinberg D. , Kieff E.
Proc. Natl. Acad. Sci. U.S.A.92:3259-3263(1995) [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 EBV EBNA2
10.

"Immunoaffinity purification and functional characterization of human transcription factor IIH and RNA polymerase II from clonal cell lines that conditionally express epitope-tagged subunits of the multiprotein complexes."
Kershnar E. , Wu S.-Y. , Chiang C.-M.
J. Biol. Chem.273:34444-34453(1998) [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: IDENTIFICATION IN THE TFIIH BASAL TRANSCRIPTION FACTOR
11.

"Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH."
Coin F. , Marinoni J.-C. , Rodolfo C. , Fribourg S. , Pedrini A.M. , Egly J.-M.
Nat. Genet.20:184-188(1998) [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 GTF2H2
12.

"Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7."
Tirode F. , Busso D. , Coin F. , Egly J.-M.
Mol. Cell3:87-95(1999) [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: MUTAGENESIS OF LYS-48;FUNCTION
13.

"Selective regulation of vitamin D receptor-responsive genes by TFIIH."
Drane P. , Compe E. , Catez P. , Chymkowitch P. , Egly J.-M.
Mol. Cell16:187-197(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;POSSIBLE PATHOLOGICAL MECHANISM OF VARIANT XP-D TRP-683
14.

"Identification and Herc5-mediated ISGylation of novel target proteins."
Takeuchi T. , Inoue S. , Yokosawa H.
Biochem. Biophys. Res. Commun.348:473-477(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: ISGYLATION
15.

"MCAF1/AM is involved in Sp1-mediated maintenance of cancer-associated telomerase activity."
Liu L. , Ishihara K. , Ichimura T. , Fujita N. , Hino S. , Tomita S. , Watanabe S. , Saitoh N. , Ito T. , Nakao M.
J. Biol. Chem.284:5165-5174(2009) [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 ATF7IP
16.

"MMXD, a TFIIH-independent XPD-MMS19 protein complex involved in chromosome segregation."
Ito S. , Tan L.J. , Andoh D. , Narita T. , Seki M. , Hirano Y. , Narita K. , Kuraoka I. , Hiraoka Y. , Tanaka K.
Mol. Cell39:632-640(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: FUNCTION;IDENTIFICATION IN MMXD COMPLEX;INTERACTION WITH FAM196B;SUBCELLULAR LOCATION
17.

"Initial characterization of the human central proteome."
Burkard T.R. , Planyavsky M. , Kaupe I. , Breitwieser F.P. , Buerckstuemmer T. , Bennett K.L. , Superti-Furga G. , Colinge J.
BMC Syst. Biol.5:17-17(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: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
18.

"MMS19 links cytoplasmic iron-sulfur cluster assembly to DNA metabolism."
Gari K. , Leon Ortiz A.M. , Borel V. , Flynn H. , Skehel J.M. , Boulton S.J.
Science337:243-245(2012) [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: IRON-SULFUR-BINDING;COFACTOR;MUTAGENESIS OF CYS-190
19.

"Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene."
Frederick G.D. , Amirkhan R.H. , Schultz R.A. , Friedberg E.C.
Hum. Mol. Genet.3:1783-1788(1994) [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 XP-D VAL-461
20.

"Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy."
Broughton B.C. , Steingrimsdottir H. , Weber C.A. , Lehmann A.R.
Nat. Genet.7:189-194(1994) [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 TTDP HIS-112; PRO-616; TRP-722 AND 488-VAL--MET-493 DEL
21.

"Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome."
Broughton B.C. , Thompson A.F. , Harcourt S.A. , Vermeulen W. , Hoeijmakers J.H.J. , Botta E. , Stefanini M. , King M.D. , Weber C.A. , Cole J. , Arlett C.F. , Lehmann A.R.
Am. J. Hum. Genet.56:167-174(1995) [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 XP-D ARG-675
22.

"Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D."
Takayama K. , Salazar E.P. , Lehmann A.R. , Stefanini M. , Thompson L.H. , Weber C.A.
Cancer Res.55:5656-5663(1995) [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 XP-D
23.

"Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy."
Takayama K. , Salazar E.P. , Broughton B.C. , Lehmann A.R. , Sarasin A. , Thompson L.H. , Weber C.A.
Am. J. Hum. Genet.58:263-270(1996) [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 TTDP CYS-658 AND ARG-713
24.

"Mutations in the XPD gene leading to Xeroderma pigmentosum symptoms."
Kobayashi T. , Kuraoka I. , Saijo M. , Nakatsu Y. , Tanaka A. , Someda Y. , Fukuro S. , Tanaka K.
Hum. Mutat.9:322-331(1997) [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 XP-D ARG-541
25.

"DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient."
Takayama K. , Danks D.M. , Salazar E.P. , Cleaver J.E. , Weber C.A.
Hum. Mutat.9:519-525(1997) [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 TTDP VAL-461; 716-VAL--ARG-730 DEL AND PRO-725
26.

"Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene."
Taylor E.M. , Broughton B.C. , Botta E. , Stefanini M. , Sarasin A. , Jaspers N.G.J. , Fawcett H. , Harcourt S.A. , Arlett C.F. , Lehmann A.R.
Proc. Natl. Acad. Sci. U.S.A.94:8658-8663(1997) [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 TTDP/XP
27.

"Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity."
Botta E. , Nardo T. , Broughton B.C. , Marinoni S. , Lehmann A.R. , Stefanini M.
Am. J. Hum. Genet.63:1036-1048(1998) [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 TTDP HIS-112; TYR-259; VAL-461; THR-482 DEL; GLY-673 AND TRP-722
28.

"A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy."
Cleaver J.E. , Thompson L.H. , Richardson A.S. , States J.C.
Hum. Mutat.14:9-22(1999) [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: REVIEW ON VARIANTS XP-D
29.

"Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy."
Graham J.M. Jr. , Anyane-Yeboa K. , Raams A. , Appeldoorn E. , Kleijer W.J. , Garritsen V.H. , Busch D. , Edersheim T.G. , Jaspers N.G.J.
Am. J. Hum. Genet.69:291-300(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: VARIANTS COFS2 TRP-616 AND ASN-681
30.

"Associations between ercc2 polymorphisms and gliomas."
Caggana M. , Kilgallen J. , Conroy J.M. , Wiencke J.K. , Kelsey K.T. , Miike R. , Chen P. , Wrensch M.R.
Cancer Epidemiol. Biomarkers Prev.10:355-360(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: VARIANT CYS-616
31.

"Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients."
Spitz M.R. , Wu X. , Wang Y. , Wang L.E. , Shete S. , Amos C.I. , Guo Z. , Lei L. , Mohrenweiser H. , Wei Q.
Cancer Res.61:1354-1357(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: VARIANTS ASN-312 AND GLN-751
32.

"XPD exon 10 and 23 polymorphisms and DNA repair in human skin in situ."
Hemminki K. , Xu G. , Angelini S. , Snellman E. , Jansen C.T. , Lambert B. , Hou S.M.
Carcinogenesis22:1185-1188(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: VARIANTS ASN-312 AND GLN-751
33.

"The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases."
Lehmann A.R.
Genes Dev.15:15-23(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: REVIEW ON VARIANTS
34.

"Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene."
Broughton B.C. , Berneburg M. , Fawcett H. , Taylor E.M. , Arlett C.F. , Nardo T. , Stefanini M. , Menefee E. , Price V.H. , Queille S. , Sarasin A. , Bohnert E. , Krutmann J. , Davidson R. , Kraemer K.H. , Lehmann A.R.
Hum. Mol. Genet.10:2539-2547(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: VARIANTS XP-D HIS-112; PRO-485 AND 582-GLU-LYS-583 DELINS VAL-SER-GLU;VARIANTS ASN-312 AND GLN-751
35.

"A temperature-sensitive disorder in basal transcription and DNA repair in humans."
Vermeulen W. , Rademakers S. , Jaspers N.G.J. , Appeldoorn E. , Raams A. , Klein B. , Kleijer W.J. , Hansen L.K. , Hoeijmakers J.H.J.
Nat. Genet.27:299-303(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: VARIANTS TTDP CYS-658 AND ARG-713

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