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

Bibliography

Pubmed ID	Last Year	Title	Authors

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
15220921	2004	A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A.	95
17466626	2007	Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repair.	95
12820975	2003	Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients.	77
24609361	2014	G quadruplexes are genomewide targets of transcriptional helicases XPB and XPD.	64
21157430	2011	The phosphorylation of the androgen receptor by TFIIH directs the ubiquitin/proteasome process.	56
12393803	2002	Reduced level of the repair/transcription factor TFIIH in trichothiodystrophy.	40
18676680	2008	Pathway-based evaluation of 380 candidate genes and lung cancer susceptibility suggests the importance of the cell cycle pathway.	32
12865926	2003	Lack of involvement of nucleotide excision repair gene polymorphisms in colorectal cancer.	30
20004634	2010	Breast cancer risk and common single nucleotide polymorphisms in homologous recombination DNA repair pathway genes XRCC2, XRCC3, NBS1 and RAD51.	28
19692168	2010	Genetic susceptibility to distinct bladder cancer subphenotypes.	25

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/css/template-card.css