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ERCC6

Summary: This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Alternative splicing occurs between a splice site from exon 5 of this gene to the 3' splice site upstream of the open reading frame (ORF) of the adjacent gene, piggyback-derived-3 (GeneID:267004), which activates the alternative polyadenylation site downstream of the piggyback-derived-3 ORF. The resulting transcripts encode a fusion protein that shares sequence with the product of each individual gene. [provided by RefSeq, Mar 2016].

Name	OMIM ID	Ensembl ID	HGNC ID	PHARMGKB ID	Map Location
ERCC excision repair 6, chromatin remodeling factor	MIM:609413	Ensembl:ENSG00000225830	HGNC:HGNC:3438	PA27852	10q11.23

Gene Categories:

SERINE THREONINE KINASE DNA REPAIR KINASE TYROSINE KINASE

GO terms in ERCC6

Term Type	Evidence Type	GO Term ID	GO Des.
CC	IDA	GO:0005634	nucleus
CC	IEA	GO:0005634	nucleus
CC	IDA	GO:0005654	nucleoplasm
CC	TAS	GO:0005654	nucleoplasm
CC	IDA	GO:0005730	nucleolus
CC	IDA	GO:0008023	transcription elongation factor complex
BP	IEA	GO:0000303	response to superoxide
BP	IMP	GO:0006283	transcription-coupled nucleotide-excision repair
BP	TAS	GO:0006283	transcription-coupled nucleotide-excision repair
BP	IMP	GO:0006284	base-excision repair
BP	IEA	GO:0006290	pyrimidine dimer repair
BP	IEA	GO:0006362	transcription elongation from RNA polymerase I promoter
BP	NAS	GO:0006366	transcription by RNA polymerase II
BP	IDA	GO:0006979	response to oxidative stress
BP	IGI	GO:0006979	response to oxidative stress
BP	IEA	GO:0007256	activation of JNKK activity
BP	IEA	GO:0007257	activation of JUN kinase activity
BP	IEA	GO:0008630	intrinsic apoptotic signaling pathway in response to DNA damage
BP	IDA	GO:0009411	response to UV
BP	IEA	GO:0009636	response to toxic substance
BP	IEA	GO:0010165	response to X-ray
BP	IEA	GO:0010224	response to UV-B
BP	IEA	GO:0010332	response to gamma radiation
BP	IDA	GO:0032784	regulation of DNA-templated transcription, elongation
BP	IDA	GO:0032786	positive regulation of DNA-templated transcription, elongation
BP	IEA	GO:0035264	multicellular organism growth
BP	IEA	GO:0045494	photoreceptor cell maintenance
BP	TAS	GO:0045815	positive regulation of gene expression, epigenetic
BP	IEA	GO:0061098	positive regulation of protein tyrosine kinase activity
MF	IDA	GO:0003677	DNA binding
MF	IDA	GO:0003678	DNA helicase activity
MF	IDA	GO:0003682	chromatin binding
MF	IPI	GO:0005515	protein binding
MF	IDA	GO:0005524	ATP binding
MF	IPI	GO:0008022	protein C-terminus binding
MF	IDA	GO:0008094	DNA-dependent ATPase activity
MF	IDA	GO:0030296	protein tyrosine kinase activator activity
MF	IDA	GO:0044877	protein-containing complex binding
MF	IPI	GO:0047485	protein N-terminus binding

Gene expression in normal tissue: ERCC6

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Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in ERCC6

Database	Pathway ID	Pathway Des.
kegg	hsa03420	Nucleotide excision repair - Homo sapiens (human)
reactome	R-HSA-212165	Epigenetic regulation of gene expression
reactome	R-HSA-212165	Epigenetic regulation of gene expression
reactome	R-HSA-427389	ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
reactome	R-HSA-5250913	Positive epigenetic regulation of rRNA expression
reactome	R-HSA-5250913	Positive epigenetic regulation of rRNA expression
reactome	R-HSA-5250924	B-WICH complex positively regulates rRNA expression
reactome	R-HSA-5696398	Nucleotide Excision Repair
reactome	R-HSA-6781823	Formation of TC-NER Pre-Incision Complex
reactome	R-HSA-6781827	Transcription-Coupled Nucleotide Excision Repair (TC-NER)
reactome	R-HSA-6782135	Dual incision in TC-NER
reactome	R-HSA-6782210	Gap-filling DNA repair synthesis and ligation in TC-NER
reactome	R-HSA-73762	RNA Polymerase I Transcription Initiation
reactome	R-HSA-73854	RNA Polymerase I Promoter Clearance
reactome	R-HSA-73864	RNA Polymerase I Transcription
reactome	R-HSA-73894	DNA Repair
reactome	R-HSA-74160	Gene expression (Transcription)
reactome	R-HSA-74160	Gene expression (Transcription)

Gene-Drug: Aster Plot

Drug ID	Drug Name	Model Num.
iGMDRD420	Leucascandrolide A	2
iGMDRD554	CHEMBL1434137	3
iGMDRD781	Sirolimus	4
iGMDRD483	SCH-529074	2
iGMDRD779	PRL-3 Inhibitor I	3
iGMDRD144	NSC95397	1
iGMDRD546	BMS-754807	2
iGMDRD152	179324-69-7	1
iGMDRD446	LY 2183240	2
iGMDRD394	BX-795	1
iGMDRD138	PX 12	1
iGMDRD187	BRD9876	2
iGMDRD188	Piperlongumine	2
iGMDRD524	ISX-9	3
iGMDRD148	Pifithrin-mu	3
iGMDRD512	nutlin 3	3
iGMDRD160	Cis-Platin	2
iGMDRD698	Neratinib	5
iGMDRD499	PDMP	1
iGMDRD154	NSC23766	3
iGMDRD132	(-)-gallocatechin-3-O-gallate	6
iGMDRD435	BI-2536	1
iGMDRD123	Isoevodiamine	2
iGMDRD177	Teniposide	2
iGMDRD137	Indisulam	2
iGMDRD231	Importazole	5
iGMDRD267	Oligomycin A	3
iGMDRD289	Parthenolide	6
iGMDRD286	Nsc 632839	2
iGMDRD147	Prima-1	2
iGMDRD300	Tozasertib	2
iGMDRD505	Pevonedistat	2

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in ERCC6

SITE

DATATYPES

CLASSFICATION

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