ERCC3 (Excision repair cross-complementing rodent repair deficiency, complementation group 3)
2001-02-01 Anne Stary , Alain Sarasin AffiliationLaboratory of Genetic Instability, Cancer, UPR2169 CNRS, Institut de Recherches sur le Cancer, 7, rue guy Moquet, BP 8, 94801 VILLEJUIF, France
Identity
HGNC
LOCATION
2q14.3
IMAGE
LEGEND
XPB (2q21) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.
LOCUSID
ALIAS
BTF2,GTF2H,RAD25,Ssl2,TFIIH,TTD2,XPB
FUSION GENES
DNA/RNA
Description
2751 b mRNA
Proteins
Expression
ubiquitous
Localisation
nuclear
Function
DNA excision repair protein. 3-5 ATP-dependent helicase activity involved in excision DNA repair and initiation of basal transcription
The XPB protein displays a 3-5 helicase activity. This protein is a subunit of the basal transcription factor TFIIH involved in both Nucleotide Excision Repair (NER) and the initiation of RNA polymerase II . Indeed, TFIIH fulfills a dual role in transcription initiation and NER and the role of TFIIH in NER might closely mimic its role in the transcription initiation process. In transcription initiation TFIIH is thought to be involved in unwinding of the promoter site to allowing promoter clearance. In the NER process TFIIH causes unwinding of the lesion-containing region that has been localized by XPC-HR23B and XPA-RPA, enabling the accumulation of NER proteins around the damaged site.
Among the Xeroderma pigmentosum (XP) patients, XPB patients are extremely rare (only 3 patients known in the world) due to the fact that the XPB gene product is essential for transcription initiation and in all cases, these patients show the double symptoms of Xeroderma pigmentosum and Cockayne syndrome (CS) (see below).
Homology
haywire gene (FLYBASE, hay) ; Ercc3 (MGI : 95414)
Mutations
Germinal
F99S (T296C) is found in two XPB/CS patients; T119P (A355C) is found in two TTD/XPB patients; FS740 is found in one XPB/CS patient
Implicated in
Entity name
ERCC3/XPB
Disease
Xeroderma pigmentosum and Cockayne syndrome in the same patient or Trichothiodystrophy. Early skin cancers
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 10862089 | 2000 | Identification of four single nucleotide polymorphisms in DNA repair genes: XPA and XPB (ERCC3) in Polish population. | Butkiewicz D et al |
| 10064601 | 1999 | Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH. | Coin F et al |
| 8876669 | 1996 | Comparative analyses of relative ERCC3 and ERCC6 mRNA levels in gliomas and adjacent non-neoplastic brain. | Dabholkar MD et al |
| 9278484 | 1997 | Reduced RNA polymerase II transcription in extracts of cockayne syndrome and xeroderma pigmentosum/Cockayne syndrome cells. | Dianov GL et al |
| 11027286 | 2000 | Mechanism of promoter melting by the xeroderma pigmentosum complementation group B helicase of transcription factor IIH revealed by protein-DNA photo-cross-linking. | Douziech M et al |
| 8152490 | 1994 | Dual role of TFIIH in DNA excision repair and in transcription by RNA polymerase II. | Drapkin R et al |
| 8194529 | 1994 | p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNA repair. | Humbert S et al |
| 8663148 | 1996 | A 3' --> 5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription. | Hwang JR et al |
| 8612585 | 1996 | Functional interactions between p53 and the TFIIH complex are affected by tumour-associated mutations. | Léveillard T et al |
| 1741247 | 1992 | Molecular and functional analysis of the XPBC/ERCC-3 promoter: transcription activity is dependent on the integrity of an Sp1-binding site. | Ma L et al |
| 8196650 | 1994 | Mutational analysis of ERCC3, which is involved in DNA repair and transcription initiation: identification of domains essential for the DNA repair function. | Ma L et al |
| 10403766 | 1999 | BCR binds to the xeroderma pigmentosum group B protein. | Maru Y et al |
| 10428772 | 1999 | A role for the TFIIH XPB DNA helicase in promoter escape by RNA polymerase II. | Moreland RJ et al |
| 10224261 | 1999 | Molecular characterization of mutant alleles of the DNA repair/basal transcription factor haywire/ERCC3 in Drosophila. | Mounkes LC et al |
| 8855220 | 1996 | Hepatitis B virus transactivator protein, HBx, associates with the components of TFIIH and stimulates the DNA helicase activity of TFIIH. | Qadri I et al |
| 9524267 | 1998 | Cloning of a cDNA from Arabidopsis thaliana homologous to the human XPB gene. | Ribeiro DT et al |
| 10332046 | 1999 | The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes. | Riou L et al |
| 8194528 | 1994 | The ERCC2/DNA repair protein is associated with the class II BTF2/TFIIH transcription factor. | Schaeffer L et al |
| 11007478 | 2000 | Molecular structure of human TFIIH. | Schultz P et al |
| 9874796 | 1999 | The BCR-ABL oncoprotein potentially interacts with the xeroderma pigmentosum group B protein. | Takeda N et al |
| 9774388 | 1998 | RNA polymerase II elongation complexes containing the Cockayne syndrome group B protein interact with a molecular complex containing the transcription factor IIH components xeroderma pigmentosum B and p62. | Tantin D et al |
| 10024882 | 1999 | Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7. | Tirode F et al |
| 9252397 | 1997 | Sequence-specific and domain-specific DNA repair in xeroderma pigmentosum and Cockayne syndrome cells. | Tu Y et al |
| 8675009 | 1996 | The XPB and XPD DNA helicases are components of the p53-mediated apoptosis pathway. | Wang XW et al |
| 9012405 | 1997 | A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy. | Weeda G et al |
| 1956789 | 1991 | Structure and expression of the human XPBC/ERCC-3 gene involved in DNA repair disorders xeroderma pigmentosum and Cockayne's syndrome. | Weeda G et al |
| 9173976 | 1997 | The XPB subunit of repair/transcription factor TFIIH directly interacts with SUG1, a subunit of the 26S proteasome and putative transcription factor. | Weeda G et al |
| 1916809 | 1991 | Localization of the xeroderma pigmentosum group B-correcting gene ERCC3 to human chromosome 2q21. | Weeda G et al |
| 2167179 | 1990 | A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome. | Weeda G et al |
| 8668144 | 1996 | TFIIH functions in regulating transcriptional elongation by RNA polymerase II in Xenopus oocytes. | Yankulov KY et al |
| 9415314 | 1997 | Retrovirus-mediated gene transfer corrects DNA repair defect of xeroderma pigmentosum cells of complementation groups A, B and C. | Zeng L et al |
| 9651581 | 1998 | A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy. | de Boer J et al |
| 8157004 | 1994 | Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFIIH). | van Vuuren AJ et al |
Other Information
Locus ID:
NCBI: 2071
MIM: 133510
HGNC: 3435
Ensembl: ENSG00000163161
Variants:
dbSNP: 2071
ClinVar: 2071
TCGA: ENSG00000163161
COSMIC: ERCC3
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA164713176 | Platinum compounds | Chemical | ClinicalAnnotation | associated | PD | 25069034 | |
| PA443622 | Carcinoma, Non-Small-Cell Lung | Disease | ClinicalAnnotation | associated | PD | 25069034 |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 36472749 | 2023 | Comprehensive analysis of ERCC3 prognosis value and ceRNA network in AML. | 1 |
| 36472749 | 2023 | Comprehensive analysis of ERCC3 prognosis value and ceRNA network in AML. | 1 |
| 35947745 | 2022 | Differential dependencies of human RNA polymerase II promoters on TBP, TAF1, TFIIB and XPB. | 14 |
| 35947745 | 2022 | Differential dependencies of human RNA polymerase II promoters on TBP, TAF1, TFIIB and XPB. | 14 |
| 33381997 | 2021 | Spironolactone-induced XPB degradation requires TFIIH integrity and ubiquitin-selective segregase VCP/p97. | 5 |
| 33381997 | 2021 | Spironolactone-induced XPB degradation requires TFIIH integrity and ubiquitin-selective segregase VCP/p97. | 5 |
| 31832883 | 2020 | Associations between expression levels of nine core nucleotide excision repair genes in lymphocytes and risk of head and neck squamous cell carcinomas in a Chinese population. | 5 |
| 32151798 | 2020 | Microtubule associated protein 9 inhibits liver tumorigenesis by suppressing ERCC3. | 7 |
| 32268270 | 2020 | MAP9/ERCC3 signaling cascade: A new insight on understanding the chromosomal instability in hepatocellular carcinoma. | 1 |
| 32434920 | 2020 | Epstein-Barr virus co-opts TFIIH component XPB to specifically activate essential viral lytic promoters. | 7 |
| 32557569 | 2020 | Early-onset nucleotide excision repair disorders with neurological impairment: Clues for early diagnosis and prognostic counseling. | 5 |
| 33125943 | 2020 | ERCC3, a new ovarian cancer susceptibility gene? | 4 |
| 31832883 | 2020 | Associations between expression levels of nine core nucleotide excision repair genes in lymphocytes and risk of head and neck squamous cell carcinomas in a Chinese population. | 5 |
| 32151798 | 2020 | Microtubule associated protein 9 inhibits liver tumorigenesis by suppressing ERCC3. | 7 |
| 32268270 | 2020 | MAP9/ERCC3 signaling cascade: A new insight on understanding the chromosomal instability in hepatocellular carcinoma. | 1 |
Citation
Anne Stary ; Alain Sarasin
ERCC3 (Excision repair cross-complementing rodent repair deficiency, complementation group 3)
Atlas Genet Cytogenet Oncol Haematol. 2001-02-01
Online version: http://atlasgeneticsoncology.org/gene/296/ercc3-(excision-repair-cross-complementing-rodent-repair-deficiency-complementation-group-3)
