Homo sapiens Gene: ERCC1
Summary
InnateDB Gene IDBG-57509.6
Last Modified 2014-10-13 [Report errors or provide feedback]
Gene Symbol ERCC1
Gene Name excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)
Synonyms COFS4; RAD10; UV20;
Species Homo sapiens
Ensembl Gene ENSG00000012061
Encoded Proteins
excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)
excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)
excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)
excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)
Protein Structure
Useful resources Stemformatics EHFPI ImmGen
Entrez Gene
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]
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]
Gene Information
Type Protein coding
Genomic Location Chromosome 19:45407333-45478828
Strand Reverse strand
Band q13.32
Transcripts
ENST00000300853 ENSP00000300853
ENST00000340192 ENSP00000345203
ENST00000013807 ENSP00000013807
ENST00000423698 ENSP00000394875
ENST00000589165 ENSP00000468035
ENST00000590701 ENSP00000466644
ENST00000589214 ENSP00000465524
ENST00000591636 ENSP00000468119
ENST00000587888 ENSP00000465225
ENST00000592083 ENSP00000467183
ENST00000592444 ENSP00000465354
ENST00000589381 ENSP00000468548
ENST00000592023 ENSP00000468158
ENST00000588738
ENST00000592905
ENST00000592410
ENST00000588300
Interactions
Number of Interactions This gene and/or its encoded proteins are associated with 25 experimentally validated interaction(s) in this database.
Experimentally validated
Total 25 [view]
Protein-Protein 23 [view]
Protein-DNA 2 [view]
Protein-RNA 0
DNA-DNA 0
RNA-RNA 0
DNA-RNA 0
Gene Ontology

Molecular Function
Accession GO Term
GO:0000014 single-stranded DNA endodeoxyribonuclease activity
GO:0001094 TFIID-class transcription factor binding
GO:0003677 DNA binding
GO:0003684 damaged DNA binding
GO:0003697 single-stranded DNA binding
GO:0004519 endonuclease activity
GO:0005515 protein binding
GO:0008022 protein C-terminus binding
GO:0017025 TBP-class protein binding
GO:0019904 protein domain specific binding
GO:0043566 structure-specific DNA binding
Biological Process
GO:0000718 nucleotide-excision repair, DNA damage removal
GO:0000720 pyrimidine dimer repair by nucleotide-excision repair
GO:0000737 DNA catabolic process, endonucleolytic
GO:0001302 replicative cell aging
GO:0006281 DNA repair
GO:0006283 transcription-coupled nucleotide-excision repair
GO:0006289 nucleotide-excision repair
GO:0006295 nucleotide-excision repair, DNA incision, 3'-to lesion
GO:0006296 nucleotide-excision repair, DNA incision, 5'-to lesion
GO:0006302 double-strand break repair
GO:0006310 DNA recombination
GO:0006312 mitotic recombination
GO:0006949 syncytium formation
GO:0006974 cellular response to DNA damage stimulus
GO:0006979 response to oxidative stress
GO:0007281 germ cell development
GO:0007283 spermatogenesis
GO:0007584 response to nutrient
GO:0008283 cell proliferation
GO:0008584 male gonad development
GO:0009650 UV protection
GO:0009744 response to sucrose stimulus
GO:0010165 response to X-ray
GO:0010259 multicellular organismal aging
GO:0032205 negative regulation of telomere maintenance
GO:0035166 post-embryonic hemopoiesis
GO:0035264 multicellular organism growth
GO:0036297 interstrand cross-link repair
GO:0045190 isotype switching
GO:0048468 cell development
GO:0048477 oogenesis
GO:0048568 embryonic organ development
GO:0051276 chromosome organization
GO:0090305 nucleic acid phosphodiester bond hydrolysis
Cellular Component
GO:0000109 nucleotide-excision repair complex
GO:0000784 nuclear chromosome, telomeric region
GO:0005634 nucleus
GO:0005654 nucleoplasm
GO:0005669 transcription factor TFIID complex
GO:0005737 cytoplasm
Orthologs
Species
Mus musculus
Bos taurus
Gene ID
Gene Order
Method
Confidence
Comments
SSD Ortholog
Ortholog supports species divergence
Not yet available
SSD Ortholog
Ortholog supports species divergence
Pathways
NETPATH
REACTOME
Transcription-coupled NER (TC-NER) pathway
Formation of incision complex in GG-NER pathway
Dual incision reaction in GG-NER pathway
Global Genomic NER (GG-NER) pathway
Dual incision reaction in TC-NER pathway
Formation of transcription-coupled NER (TC-NER) repair complex pathway
Nucleotide Excision Repair pathway
DNA Repair pathway
KEGG
Nucleotide excision repair pathway
INOH
PID BIOCARTA
PID NCI
Cross-References
SwissProt
TrEMBL K7ES46
UniProt Splice Variant
Entrez Gene 2067
UniGene Hs.435981 Hs.672821
RefSeq NM_001983 NM_001166049 NM_202001 XM_005258636 XM_005258635 XM_005258634
HUGO HGNC:3433
OMIM 126380
CCDS CCDS12662 CCDS54279 CCDS12663
HPRD 00533
IMGT
EMBL AC092309 AC138128 AC138534 AC139353
GenPept
RNA Seq Atlas 2067