ERCC6 (excision repair cross-complementing rodent repair deficiency, complementation group 6)

2001-09-01 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

ERCC6

LOCATION

10q11.23

IMAGE

LEGEND

ERCC6 (10q11-10q21) - Courtesy Mariano Rocchi, Resources for Molecular Cytogenetics.

LOCUSID

2074

ALIAS

ARMD5,CKN2,COFS,COFS1,CSB,CSB-PGBD3,POF11,RAD26,UVSS1

FUSION GENES

Show Gene Fusions

DNA/RNA

Transcription

4714 b

Proteins

Description

1493 amino acids ; 168415 Da

Function

The Cockayne syndrome B (CSB) gene encodes for a DNA-dependent ATPase which is involved in the preferential repair of active genes. The CSB gene product is recruited to RNA polymerase II complexes and enhances elongation on an undamaged template by a factor of about three.

Mutations

Germinal

13 base substitutions ; 4 small deletions ; 3 small insertions ; 2 gross rearrangements

Implicated in

Entity name

Cockayne syndrome, CS group B

Disease

The Cockayne syndrome B is characterized by sensitivity to sunlight, dwarfism, precociously senile appearance, pigmentary retinal degeneration, optic atrophy and deafness.

Bibliography

Pubmed ID	Last Year	Title	Authors

Other Information

Locus ID:

NCBI: 2074
MIM: 609413
HGNC: 3438
Ensembl: ENSG00000225830

Variants:

dbSNP: 2074
ClinVar: 2074
TCGA: ENSG00000225830
COSMIC: ERCC6

RNA/Proteins

Gene ID	Transcript ID	Uniprot
ENSG00000225830	ENST00000355832	Q03468
ENSG00000225830	ENST00000447839	P0DP91
ENSG00000225830	ENST00000462247	D6R9X7
ENSG00000225830	ENST00000515869	P0DP91
ENSG00000225830	ENST00000624341	A0A096LNQ7

Expression (GTEx)

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
Nucleotide excision repair	KEGG	ko03420
Nucleotide excision repair	KEGG	hsa03420
Gene Expression	REACTOME	R-HSA-74160
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
Epigenetic regulation of gene expression	REACTOME	R-HSA-212165
DNA Repair	REACTOME	R-HSA-73894
Nucleotide Excision Repair	REACTOME	R-HSA-5696398
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
Positive epigenetic regulation of rRNA expression	REACTOME	R-HSA-5250913
B-WICH complex positively regulates rRNA expression	REACTOME	R-HSA-5250924
ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression	REACTOME	R-HSA-427389

References

Pubmed ID	Year	Title	Citations
16916636	2006	Cockayne syndrome A and B proteins differentially regulate recruitment of chromatin remodeling and repair factors to stalled RNA polymerase II in vivo.	170
16246722	2005	Recognition of RNA polymerase II and transcription bubbles by XPG, CSB, and TFIIH: insights for transcription-coupled repair and Cockayne Syndrome.	86
12419226	2002	CSB is a component of RNA pol I transcription.	85
16751180	2006	CSA-dependent degradation of CSB by the ubiquitin-proteasome pathway establishes a link between complementation factors of the Cockayne syndrome.	84
17996703	2007	Damage-induced ubiquitylation of human RNA polymerase II by the ubiquitin ligase Nedd4, but not Cockayne syndrome proteins or BRCA1.	83
17707230	2007	Activation of RNA polymerase I transcription by cockayne syndrome group B protein and histone methyltransferase G9a.	76
19894250	2010	Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.	71
22473955	2012	Cockayne syndrome group B protein prevents the accumulation of damaged mitochondria by promoting mitochondrial autophagy.	67
16772382	2006	Cockayne syndrome group B protein (CSB) plays a general role in chromatin maintenance and remodeling.	64
19116388	2009	A field synopsis on low-penetrance variants in DNA repair genes and cancer susceptibility.	63

Citation

Anne Stary ; Alain Sarasin

ERCC6 (excision repair cross-complementing rodent repair deficiency, complementation group 6)

Atlas Genet Cytogenet Oncol Haematol. 2001-09-01

Online version: http://atlasgeneticsoncology.org/gene/302/css/card-gene.css