Tbio ERCC1 DNA excision repair protein ERCC-1

Protein Summary

Description

Isoform 1: Non-catalytic component of a structure-specific DNA repair endonuclease responsible for the 5'-incision during DNA repair. Responsible, in conjunction with SLX4, for the first step in the repair of interstrand cross-links (ICL). Participates in the processing of anaphase bridge-generating DNA structures, which consist in incompletely processed DNA lesions arising during S or G2 phase, and can result in cytokinesis failure. Also required for homology-directed repair (HDR) of DNA double-strand breaks, in conjunction with SLX4. The product of this gene functions in the nucleotide excision repair pathway, and is required for the repair of DNA lesions such as those induced by UV light or formed by electrophilic compounds including cisplatin. The encoded protein forms a heterodimer with the XPF endonuclease (also known as ERCC4), and the heterodimeric endonuclease catalyzes the 5' incision in the process of excising the DNA lesion. The heterodimeric endonuclease is also involved in recombinational DNA repair and in the repair of inter-strand crosslinks. Mutations in this gene result in cerebrooculofacioskeletal syndrome, and polymorphisms that alter expression of this gene may play a role in carcinogenesis. Multiple transcript variants encoding different isoforms have been found for this gene. The last exon of this gene overlaps with the CD3e molecule, epsilon associated protein gene on the opposite strand. [provided by RefSeq, Oct 2009]

Uniprot Accession IDs

• P07992
• B2RC01
• B3KRR0
• Q7Z7F5
• Q96S40

Gene Name

• ERCC1

Ensembl ID

• ENST00000013807
• ENSP00000013807
• ENSG00000012061
• ENST00000300853
• ENSP00000300853
• ENST00000340192
• ENSP00000345203
• ENST00000423698
• ENSP00000394875
• ENST00000589165
• ENSP00000468035

Symbol

• UV20
• COFS4
• RAD10

Knowledge Table

Most Knowledge About	Knowledge Value (0 to 1 scale)
biological term	0.99
disease perturbation	0.96
kinase perturbation	0.96
transcription factor perturbation	0.94
biological process	0.93

Protein Classes

PANTHER Classes

Protein / Nucleic Acid Binding / Nuclease / Endodeoxyribonuclease / Dna Excision Repair Protein Ercc-1

Protein / Nucleic Acid Binding / Dna Binding Protein / Endodeoxyribonuclease / Dna Excision Repair Protein Ercc-1

DTO Classes

Protein / Enzyme / Nuclease / Endodeoxyribonuclease / Dna Excision Repair Protein Ercc-1

IDG Development Level Summary

Tdark

These are targets about which virtually nothing is known. They do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1374.28   (req: < 5)

Gene RIFs: 463   (req: <= 3)

Antibodies: 1117   (req: <= 50)

Tbio

These targets do not have known drug or small molecule activities
- AND - satisfy two or more of the following criteria:

Pubmed score: 1374.28   (req: >= 5)

Gene RIFs: 463   (req: > 3)

Antibodies: 1117   (req: > 50)

- OR - satisfy the following criterion:

Gene Ontology Terms: 44

Tchem

Target has at least one ChEMBL compound with an activity cutoff of < 30 nM - AND - satisfies the preceding conditions

Active Ligand: 0

Tclin

Target has at least one approved drug - AND - satisfies the preceding conditions

Active Drug: 0

Expression Data (0 Tissues)

tutorial

No expression data found

Protein Sequence and Structure

Residue Counts

Protein Sequence

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Related Tools (4)

Target Illumination GWAS Analytics (TIGA)

TIGA scores and ranks GWAS discovered associations according to the quantity and quality of the evidence supporting the association.

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GENEVA

GENEVA (GENe Expression Variance Analysis) allows you to identify RNA-sequencing datasets from the Gene Expression Omnibus (GEO) that contain conditions modulating a gene or a gene signature.

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GlyGen

GlyGen is a data integration and dissemination project for carbohydrate and glycoconjugate related data.

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ARCHS4

ARCHS4 provides access to gene-function predictions based on RNA-seq co-expression, and gene expression levels across cell and tissues.

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Approved Drugs (0)

No approved drugs found

Active Ligands (0)

No active ligands found

Protein-Protein Interactions (283)

Explore Interacting Targets

1 – 10 of 283

• See Interactions on String-DB

SLX4

Tbio

Family:  Enzyme

Novelty:  0.01677273

p_int:  0.999999999

p_ni:  1e-9

Score:  0.997

Data Source:  BioPlex,STRINGDB

ERCC4

Tbio

Family:  Enzyme

Novelty:  0.01076913

p_int:  0.999999981

p_ni:  1.8e-8

p_wrong:  1e-9

Score:  0.999

Data Source:  BioPlex,Reactome,STRINGDB

SLX4IP

Tbio

Novelty:  0.25359409

p_int:  0.999996887

p_ni:  0.000003113

Score:  0.605

Data Source:  BioPlex,STRINGDB

XPA

Tchem

Novelty:  0.00137698

p_int:  0.999986073

p_ni:  0.000012422

p_wrong:  0.000001504

Score:  0.999

Data Source:  BioPlex,STRINGDB

MAGIX

Tdark

Novelty:  0.38577176

p_int:  0.999771367

p_ni:  0.000228384

p_wrong:  2.49e-7

Score:  0.183

Data Source:  BioPlex,STRINGDB

MUS81

Tbio

Family:  Enzyme

Novelty:  0.00532122

p_int:  0.985591388

p_ni:  0.000735723

p_wrong:  0.013672889

Score:  0.999

Data Source:  BioPlex,STRINGDB

ZFC3H1

Tbio

Novelty:  0.17313739

p_int:  0.983600598

p_ni:  0.001285422

p_wrong:  0.01511398

Score:  0.183

Data Source:  BioPlex,STRINGDB

SLX1A

Tbio

Family:  Enzyme

Novelty:  0.0310173

p_int:  0.91313037

p_ni:  0.000009168

p_wrong:  0.086860462

Score:  0.905

Data Source:  BioPlex,STRINGDB

RAD1

Tchem

Novelty:  0.0060275

Score:  0.999

Data Source:  STRINGDB

MSH2

Tbio

Novelty:  0.00054283

Score:  0.997

Data Source:  STRINGDB

Nearest Tclin Targets

Nearest Tclin calculations are only available for targets with KEGG Pathway annotations.

Pathways (15)

Reactome (12)

KEGG (3)

DNA Double-Strand Break Repair (R-HSA-5693532)

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Data Source	Name	Explore in Pharos	Explore in Source
Reactome	DNA Double-Strand Break Repair	146 targets	R-HSA-5693532
Reactome	DNA Repair	306 targets	R-HSA-73894
Reactome	Dual Incision in GG-NER	41 targets	R-HSA-5696400
Reactome	Dual incision in TC-NER	65 targets	R-HSA-6782135
Reactome	Fanconi Anemia Pathway	36 targets	R-HSA-6783310

Name	Explore in Pharos	Explore in Source
DNA Double-Strand Break Repair	146 targets	R-HSA-5693532
DNA Repair	306 targets	R-HSA-73894
Dual Incision in GG-NER	41 targets	R-HSA-5696400
Dual incision in TC-NER	65 targets	R-HSA-6782135
Fanconi Anemia Pathway	36 targets	R-HSA-6783310

Viral Interactions (0)

No viral interactions found

Gene Ontology Terms (51)

Functions (6)

Components (7)

Processes (38)

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1 – 6 of 6

GO Term	Evidence	Assigned by
damaged DNA binding	Inferred from Direct Assay (IDA)	UniProtKB
single-stranded DNA binding	Inferred from Direct Assay (IDA)	UniProtKB
protein C-terminus binding	Inferred from Physical Interaction (IPI)	UniProtKB
protein domain specific binding	Inferred from Physical Interaction (IPI)	UniProtKB
single-stranded DNA endodeoxyribonuclease activity	Inferred from Biological aspect of Ancestor (IBA)	GO_Central
TFIID-class transcription factor complex binding	Inferred from Electronic Annotation (IEA)	Ensembl

Disease Associations (null)

No disease associations found

GWAS Traits (14)

• Explore on Target Illumination GWAS Analytics (TIGA)

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1 – 5 of 14

GWAS Trait	EFO ID	Study Count	SNP Count	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
creatine kinase measurement	EFO_0004534	4	4	7		98.4
heel bone mineral density	EFO_0009270	3	4	6		91.1
apolipoprotein B measurement	EFO_0004615	1	5	5		88.7
low density lipoprotein cholesterol measurement	EFO_0004611	1	3	3		76.7
C-reactive protein measurement	EFO_0004458	2	3	3		71.8

• Explore on Target Illumination GWAS Analytics (TIGA)

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5

1 – 5 of 14

GWAS Trait	EFO ID	Beta Count	Odds Ratio	Evidence (Mean Rank Score)	Provenance
creatine kinase measurement	EFO_0004534	7		98.4
heel bone mineral density	EFO_0009270	6		91.1
apolipoprotein B measurement	EFO_0004615	5		88.7
low density lipoprotein cholesterol measurement	EFO_0004611	3		76.7
C-reactive protein measurement	EFO_0004458	3		71.8

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UniProt Keyword Find Similar Targets

No Header	No Header
3D-structure
Acetylation
Alternative splicing
Cataract
Complete proteome
Cytoplasm
DNA damage
DNA repair
DNA-binding
Endonuclease

GWAS Trait Find Similar Targets

No Header	No Header
Alzheimer's disease
apolipoprotein B measurement
C-reactive protein measurement
cognitive function measurement
creatine kinase measurement
family history of Alzheimer’s disease
heel bone mineral density
intelligence
low density lipoprotein cholesterol measurement
platelet count

MGI Phenotype Find Similar Targets

No Header	No Header
adipose tissue phenotype
behavior/neurological phenotype
cellular phenotype
embryo phenotype
endocrine/exocrine gland phenotype
growth/size/body region phenotype
hematopoietic system phenotype
homeostasis/metabolism phenotype
immune system phenotype
integument phenotype

IDG Resources

No IDG generated resources found

Orthologs (14)

1 – 5 of 14

Species	Name	Source ID	Gene ID	OMA	EggNOG	Inparanoid
Chimp	ERCC excision repair 1, endonuclease non-catalytic subunit	VGNC:2387	450179
Macaque	ERCC excision repair 1, endonuclease non-catalytic subunit		574267
Mouse	excision repair cross-complementing rodent repair deficiency, complementation group 1	MGI:95412	13870
Rat	ERCC excision repair 1, endonuclease non-catalytic subunit	RGD:1306992	292673
Dog	ERCC excision repair 1, endonuclease non-catalytic subunit	VGNC:40441	612282

Species	Name	OMA	EggNOG	Inparanoid
Chimp	ERCC excision repair 1, endonuclease non-catalytic subunit
Macaque	ERCC excision repair 1, endonuclease non-catalytic subunit
Mouse	excision repair cross-complementing rodent repair deficiency, complementation group 1
Rat	ERCC excision repair 1, endonuclease non-catalytic subunit
Dog	ERCC excision repair 1, endonuclease non-catalytic subunit

Publication Statistics

PubMed Score 1374.28

PubMed score by year

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PubTator Score 1029.68

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Related Publications

Text Mined References (622)

GeneRif Annotations (463)

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PMID	Year	Title