ERCC3 (Excision repair cross-complementing rodent repair deficiency, complementation group 3)

2001-02-01 Anne Stary , Alain Sarasin Affiliation

Laboratory of Genetic Instability, Cancer, UPR2169 CNRS, Institut de Recherches sur le Cancer, 7, rue guy Moquet, BP 8, 94801 VILLEJUIF, France

Identity

HGNC

ERCC3

LOCATION

2q14.3

IMAGE

LEGEND

XPB (2q21) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.

LOCUSID

2071

ALIAS

BTF2,GTF2H,RAD25,Ssl2,TFIIH,TTD2,XPB

FUSION GENES

Show Gene Fusions

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

Gene ID	Transcript ID	Uniprot
ENSG00000163161	ENST00000285398	P19447
ENSG00000163161	ENST00000426778	F2Z2V4
ENSG00000163161	ENST00000445889	F2Z2V4
ENSG00000163161	ENST00000456257	H7C309
ENSG00000163161	ENST00000642308	A0A2R8YFS3
ENSG00000163161	ENST00000644317	A0A2R8Y4R8
ENSG00000163161	ENST00000645233	A0A2R8YFS3
ENSG00000163161	ENST00000645467	A0A2R8Y5L2
ENSG00000163161	ENST00000645504	A0A2R8Y681
ENSG00000163161	ENST00000645736	A0A2R8YES7
ENSG00000163161	ENST00000646654	A0A2R8Y5H0
ENSG00000163161	ENST00000647169	A0A2R8Y6W8
ENSG00000163161	ENST00000647496	A0A2R8Y762

Expression (GTEx)

100

Adipose - Subcutaneous

Adipose - Visceral

Adrenal Gland

Artery - Aorta

Artery - Tibial

Bladder

Brain - Amygdala

Brain - Anterior cingulate cortex

Brain - Caudate

Brain - Cerebellar Hemisphere

Brain - Cerebellum

Brain - Cortex

Brain - Frontal Cortex

Brain - Hippocampus

Brain - Hypothalamus

Brain - Nucleus accumbens

Brain - Putamen

Brain - Spinal cord

Brain - Substantia nigra

Breast - Mammary Tissue

Cells - Cultured fibroblasts

Cells - EBV - transformed lymphocytes

Cervix - Ectocervix

Cervix - Endocervix

Colon - Sigmoid

Colon - Transverse

Esophagus - Gastroesophageal Junction

Esophagus - Mucosa

Esophagus - Muscularis

Fallopian Tube

Heart - Atrial Appendage

Heart - Left Ventricle

Kidney - Cortex

Kidney - Medulla

Liver

Lung

Minor Salivary Gland

Muscle - Skeletal

Nerve - Tibial

Ovary

Pancreas

Pituitary

Prostate

Skin - Not Sun Exposed

Skin - Sun Exposed

Small Intestine - Terminal Ileum

Spleen

Stomach

Testis

Thyroid

Uterus

Vagina

Whole Blood

Pathways

Pathway	Source	External ID
Basal transcription factors	KEGG	ko03022
Nucleotide excision repair	KEGG	ko03420
Basal transcription factors	KEGG	hsa03022
Nucleotide excision repair	KEGG	hsa03420
Holo-TFIIH complex	KEGG	hsa_M00290
Holo-TFIIH complex	KEGG	M00290
Disease	REACTOME	R-HSA-1643685
Infectious disease	REACTOME	R-HSA-5663205
HIV Infection	REACTOME	R-HSA-162906
HIV Life Cycle	REACTOME	R-HSA-162587
Late Phase of HIV Life Cycle	REACTOME	R-HSA-162599
Transcription of the HIV genome	REACTOME	R-HSA-167172
HIV Transcription Initiation	REACTOME	R-HSA-167161
RNA Polymerase II HIV Promoter Escape	REACTOME	R-HSA-167162
RNA Pol II CTD phosphorylation and interaction with CE during HIV infection	REACTOME	R-HSA-167160
HIV Transcription Elongation	REACTOME	R-HSA-167169
Formation of the HIV-1 Early Elongation Complex	REACTOME	R-HSA-167158
Tat-mediated elongation of the HIV-1 transcript	REACTOME	R-HSA-167246
Formation of HIV-1 elongation complex containing HIV-1 Tat	REACTOME	R-HSA-167200
Formation of HIV elongation complex in the absence of HIV Tat	REACTOME	R-HSA-167152
Gene Expression	REACTOME	R-HSA-74160
Generic Transcription Pathway	REACTOME	R-HSA-212436
Transcriptional Regulation by TP53	REACTOME	R-HSA-3700989
RNA Polymerase I, RNA Polymerase III, and Mitochondrial Transcription	REACTOME	R-HSA-504046
RNA Polymerase I Transcription	REACTOME	R-HSA-73864
RNA Polymerase I Promoter Clearance	REACTOME	R-HSA-73854
RNA Polymerase I Transcription Initiation	REACTOME	R-HSA-73762
RNA Polymerase I Promoter Escape	REACTOME	R-HSA-73772
RNA Polymerase I Chain Elongation	REACTOME	R-HSA-73777
RNA Polymerase I Transcription Termination	REACTOME	R-HSA-73863
RNA Polymerase II Transcription	REACTOME	R-HSA-73857
RNA Polymerase II Pre-transcription Events	REACTOME	R-HSA-674695
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening	REACTOME	R-HSA-73779
RNA Polymerase II Transcription Initiation And Promoter Clearance	REACTOME	R-HSA-76042
RNA Polymerase II Transcription Initiation	REACTOME	R-HSA-75953
RNA Polymerase II Promoter Escape	REACTOME	R-HSA-73776
RNA Pol II CTD phosphorylation and interaction with CE	REACTOME	R-HSA-77075
RNA Polymerase II Transcription Elongation	REACTOME	R-HSA-75955
Formation of the Early Elongation Complex	REACTOME	R-HSA-113418
Formation of RNA Pol II elongation complex	REACTOME	R-HSA-112382
mRNA Capping	REACTOME	R-HSA-72086
Epigenetic regulation of gene expression	REACTOME	R-HSA-212165
Negative epigenetic regulation of rRNA expression	REACTOME	R-HSA-5250941
NoRC negatively regulates rRNA expression	REACTOME	R-HSA-427413
DNA Repair	REACTOME	R-HSA-73894
Nucleotide Excision Repair	REACTOME	R-HSA-5696398
Global Genome Nucleotide Excision Repair (GG-NER)	REACTOME	R-HSA-5696399
Formation of Incision Complex in GG-NER	REACTOME	R-HSA-5696395
Dual Incision in GG-NER	REACTOME	R-HSA-5696400
Transcription-Coupled Nucleotide Excision Repair (TC-NER)	REACTOME	R-HSA-6781827
Formation of TC-NER Pre-Incision Complex	REACTOME	R-HSA-6781823
Dual incision in TC-NER	REACTOME	R-HSA-6782135
Gap-filling DNA repair synthesis and ligation in TC-NER	REACTOME	R-HSA-6782210
TP53 Regulates Transcription of DNA Repair Genes	REACTOME	R-HSA-6796648

Protein levels (Protein atlas)

Not detected

Low

Medium

High

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/meetings/css/lib/favicon/favicon-32x32.png