ERCC1


Summary: 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].

NameOMIM IDEnsembl IDHGNC IDPHARMGKB IDMap Location
ERCC excision repair 1, endonuclease non-catalytic subunitMIM:126380Ensembl:ENSG00000012061HGNC:HGNC:3433PA15519q13.32

GO terms in ERCC1


Term TypeEvidence TypeGO Term IDGO Des.
MFIBAGO:0000014single-stranded DNA endodeoxyribonuclease activity
MFIDAGO:0000014single-stranded DNA endodeoxyribonuclease activity
MFIEAGO:0001094TFIID-class transcription factor binding
MFIDAGO:0003677DNA binding
MFIBAGO:0003684damaged DNA binding
MFIDAGO:0003684damaged DNA binding
MFIBAGO:0003697single-stranded DNA binding
MFIDAGO:0003697single-stranded DNA binding
MFIPIGO:0005515protein binding
MFIPIGO:0008022protein C-terminus binding
MFIPIGO:0019904protein domain specific binding
MFIMPGO:19905993' overhang single-stranded DNA endodeoxyribonuclease activity
CCIDAGO:0000109nucleotide-excision repair complex
CCIBAGO:0000110nucleotide-excision repair factor 1 complex
CCIDAGO:0000110nucleotide-excision repair factor 1 complex
CCIDAGO:0000784nuclear chromosome, telomeric region
CCIDAGO:0005654nucleoplasm
CCTASGO:0005654nucleoplasm
CCIEAGO:0005669transcription factor TFIID complex
CCIDAGO:0005829cytosol
CCIBAGO:0070522ERCC4-ERCC1 complex
CCIDAGO:0070522ERCC4-ERCC1 complex
BPIBAGO:0000710meiotic mismatch repair
BPIEAGO:0000720pyrimidine dimer repair by nucleotide-excision repair
BPIEAGO:0001302replicative cell aging
BPIMPGO:0006281DNA repair
BPTASGO:0006283transcription-coupled nucleotide-excision repair
BPIDAGO:0006289nucleotide-excision repair
BPIGIGO:0006289nucleotide-excision repair
BPTASGO:0006293nucleotide-excision repair, preincision complex stabilization
BPIMPGO:0006295nucleotide-excision repair, DNA incision, 3'-to lesion
BPIBAGO:0006296nucleotide-excision repair, DNA incision, 5'-to lesion
BPIMPGO:0006296nucleotide-excision repair, DNA incision, 5'-to lesion
BPTASGO:0006296nucleotide-excision repair, DNA incision, 5'-to lesion
BPIMPGO:0006303double-strand break repair via nonhomologous end joining
BPIGIGO:0006310DNA recombination
BPIBAGO:0006312mitotic recombination
BPIMPGO:0006312mitotic recombination
BPIEAGO:0006949syncytium formation
BPIMPGO:0006979response to oxidative stress
BPIEAGO:0007283spermatogenesis
BPIEAGO:0007584response to nutrient
BPIEAGO:0008283cell proliferation
BPIEAGO:0008584male gonad development
BPIEAGO:0009650UV protection
BPIEAGO:0009744response to sucrose
BPIEAGO:0010165response to X-ray
BPIEAGO:0010259multicellular organism aging
BPIMPGO:0032205negative regulation of telomere maintenance
BPTASGO:0033683nucleotide-excision repair, DNA incision
BPIEAGO:0035166post-embryonic hemopoiesis
BPIEAGO:0035264multicellular organism growth
BPIEAGO:0035902response to immobilization stress
BPTASGO:0036297interstrand cross-link repair
BPIEAGO:0045190isotype switching
BPIEAGO:0046686response to cadmium ion
BPIEAGO:0048477oogenesis
BPIEAGO:0048568embryonic organ development
BPIMPGO:0061819telomeric DNA-containing double minutes formation
BPTASGO:0070911global genome nucleotide-excision repair
BPIBAGO:0070914UV-damage excision repair
BPISSGO:0090656t-circle formation
BPISSGO:1904431positive regulation of t-circle formation
BPIMPGO:1905765negative regulation of protection from non-homologous end joining at telomere

Gene expression in normal tissue: ERCC1

Gene-model tissue-cancer distribution: Bubble Plot

Gene-drug pathway distribution

Pathways in ERCC1


DatabasePathway IDPathway Des.
reactomeR-HSA-5685938HDR through Single Strand Annealing (SSA)
reactomeR-HSA-5693532DNA Double-Strand Break Repair
reactomeR-HSA-5693538Homology Directed Repair
reactomeR-HSA-5693567HDR through Homologous Recombination (HRR) or Single Strand Annealing (SSA)
reactomeR-HSA-5696395Formation of Incision Complex in GG-NER
reactomeR-HSA-5696398Nucleotide Excision Repair
reactomeR-HSA-5696399Global Genome Nucleotide Excision Repair (GG-NER)
reactomeR-HSA-5696400Dual Incision in GG-NER
reactomeR-HSA-6781827Transcription-Coupled Nucleotide Excision Repair (TC-NER)
reactomeR-HSA-6782135Dual incision in TC-NER
reactomeR-HSA-6783310Fanconi Anemia Pathway
reactomeR-HSA-73894DNA Repair
pharmgkbPA2035Cyclophosphamide Pathway, Pharmacodynamics
kegghsa03420Nucleotide excision repair - Homo sapiens (human)
kegghsa03460Fanconi anemia pathway - Homo sapiens (human)

Gene-Drug: Aster Plot


Drug IDDrug NameModel Num.
iGMDRD199RG1081
iGMDRD971PARP inhibitor3
iGMDRD489GSK-4613641
iGMDRD354Midostaurin1
iGMDRD63Camptothecin1
iGMDRD239Dasatinib1
iGMDRD639YK 4-2791
iGMDRD608Refametinib1
iGMDRD358Semagacestat2
iGMDRD697Methylstat1
iGMDRD394BX-7951
iGMDRD378ZM-4474391
iGMDRD401Afatinib1
iGMDRD440Nutlin-3A1
iGMDRD117Docetaxel1
iGMDRD602Foretinib1
iGMDRD431NU-74411
iGMDRD512nutlin 31
iGMDRD324CI-10402
iGMDRD798Ceranib-21
iGMDRD50Cytarabine2
iGMDRD160Cis-Platin9
iGMDRD352PD-03259011
iGMDRD750TRIAZOLOTHIADIAZINE1
iGMDRD435BI-25361
iGMDRD156HLI-3731
iGMDRD479Veliparib1
iGMDRD551Ponatinib1
iGMDRD421AZD77621
iGMDRD384EHT-18641
iGMDRD946ML3201
iGMDRD552AZD-17751

Gene in drug-gene network: Network Plot

Gene-drug targets distribution

Gene Structure: PDB

Models in ERCC1

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