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Aliases for ERCC1 Gene

Aliases for ERCC1 Gene

  • ERCC Excision Repair 1, Endonuclease Non-Catalytic Subunit 2 3 5
  • Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 1 (Includes Overlapping Antisense Sequence) 2 3
  • Excision Repair Cross-Complementation Group 1 2 3
  • DNA Excision Repair Protein ERCC-1 3
  • COFS4 3
  • RAD10 3
  • UV20 3

External Ids for ERCC1 Gene

Previous GeneCards Identifiers for ERCC1 Gene

  • GC19M046556
  • GC19M046303
  • GC19M050586
  • GC19M050604
  • GC19M050602
  • GC19M045912
  • GC19M042340

Summaries for ERCC1 Gene

Entrez Gene Summary for ERCC1 Gene

  • 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]

GeneCards Summary for ERCC1 Gene

ERCC1 (ERCC Excision Repair 1, Endonuclease Non-Catalytic Subunit) is a Protein Coding gene. Diseases associated with ERCC1 include Cerebrooculofacioskeletal Syndrome 4 and Cockayne Syndrome Type Ii. Among its related pathways are Fanconi anemia pathway and DNA Double-Strand Break Repair. GO annotations related to this gene include protein domain specific binding and single-stranded DNA binding.

UniProtKB/Swiss-Prot for ERCC1 Gene

  • 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.

Gene Wiki entry for ERCC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERCC1 Gene

Genomics for ERCC1 Gene

Regulatory Elements for ERCC1 Gene

Enhancers for ERCC1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
- Elite enhancer/Elite enhancer-gene association

Enhancers around ERCC1 on UCSC Golden Path with GeneCards custom track

Promoters for ERCC1 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ERCC1 on UCSC Golden Path with GeneCards custom track

Transcription factor binding sites by QIAGEN in the ERCC1 gene promoter:

Genomic Location for ERCC1 Gene

Chromosome:
19
Start:
45,407,333 bp from pter
End:
45,478,828 bp from pter
Size:
71,496 bases
Orientation:
Minus strand

Genomic View for ERCC1 Gene

Genes around ERCC1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERCC1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERCC1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERCC1 Gene

Proteins for ERCC1 Gene

  • Protein details for ERCC1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P07992-ERCC1_HUMAN
    Recommended name:
    DNA excision repair protein ERCC-1
    Protein Accession:
    P07992
    Secondary Accessions:
    • B2RC01
    • B3KRR0
    • Q7Z7F5
    • Q96S40

    Protein attributes for ERCC1 Gene

    Size:
    297 amino acids
    Molecular mass:
    32562 Da
    Quaternary structure:
    • Heterodimer composed of ERCC1 isoform 1 and XPF/ERRC4.

    Three dimensional structures from OCA and Proteopedia for ERCC1 Gene

    Alternative splice isoforms for ERCC1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERCC1 Gene

Post-translational modifications for ERCC1 Gene

  • Ubiquitination at Lys 162
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Cell Signaling Technology (CST) Antibodies for ERCC1 (ERCC1)

No data available for DME Specific Peptides for ERCC1 Gene

Domains & Families for ERCC1 Gene

Gene Families for ERCC1 Gene

Graphical View of Domain Structure for InterPro Entry

P07992

UniProtKB/Swiss-Prot:

ERCC1_HUMAN :
  • Belongs to the ERCC1/RAD10/SWI10 family.
Family:
  • Belongs to the ERCC1/RAD10/SWI10 family.
genes like me logo Genes that share domains with ERCC1: view

Function for ERCC1 Gene

Molecular function for ERCC1 Gene

GENATLAS Biochemistry:
excision repair cross-complementing rodent repair defect in CHO cells (includes overlapping antisense sequence),complementation group 1,yeast RAD10 homolog,specific for leukemic blasts
UniProtKB/Swiss-Prot Function:
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.

Gene Ontology (GO) - Molecular Function for ERCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000014 contributes_to single-stranded DNA endodeoxyribonuclease activity IDA 7559382
GO:0001094 TFIID-class transcription factor binding IEA --
GO:0003684 damaged DNA binding IDA 17720715
GO:0003697 single-stranded DNA binding IDA 16076955
GO:0005515 protein binding IEA,IPI 7559382
genes like me logo Genes that share ontologies with ERCC1: view
genes like me logo Genes that share phenotypes with ERCC1: view

Human Phenotype Ontology for ERCC1 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ERCC1 Gene

MGI Knock Outs for ERCC1:

Animal Model Products

CRISPR Products

Clone Products

Flow Cytometry Products

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targets and HOMER Transcription for ERCC1 Gene

Localization for ERCC1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERCC1 Gene

Isoform 1: Nucleus.
Isoform 2: Cytoplasm. Nucleus.
Isoform 3: Nucleus.
Isoform 4: Nucleus.

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ERCC1 Gene COMPARTMENTS Subcellular localization image for ERCC1 gene
Compartment Confidence
nucleus 5
cytosol 3
cytoskeleton 2
mitochondrion 1

Gene Ontology (GO) - Cellular Components for ERCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000109 nucleotide-excision repair complex IDA 3290851
GO:0000110 nucleotide-excision repair factor 1 complex IDA 10413517
GO:0000784 nuclear chromosome, telomeric region IDA 14690602
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm TAS --
genes like me logo Genes that share ontologies with ERCC1: view

Pathways & Interactions for ERCC1 Gene

genes like me logo Genes that share pathways with ERCC1: view

Pathways by source for ERCC1 Gene

Gene Ontology (GO) - Biological Process for ERCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000720 pyrimidine dimer repair by nucleotide-excision repair IEA --
GO:0001302 replicative cell aging IEA --
GO:0006281 DNA repair IEA,IMP 25538220
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006289 nucleotide-excision repair IEA,IGI 11707424
genes like me logo Genes that share ontologies with ERCC1: view

No data available for SIGNOR curated interactions for ERCC1 Gene

Drugs & Compounds for ERCC1 Gene

(37) Drugs for ERCC1 Gene - From: PharmGKB, ClinicalTrials, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carboplatin Approved Pharma Antitumor agent that forms platinum-DNA adducts., Platinum 1942
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2614
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes, Microtubule stabilizer 1880
Oxaliplatin Approved, Investigational Pharma Antitumor agent, Platinum 1366
Capecitabine Approved, Investigational Pharma RNA processing inhibitor and thymidylate synthase inhibitor, F-pyrimidines 1257

(24) Additional Compounds for ERCC1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
genes like me logo Genes that share compounds with ERCC1: view

Transcripts for ERCC1 Gene

Unigene Clusters for ERCC1 Gene

Excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence):
Representative Sequences:

CRISPR Products

Clone Products

Flow Cytometry Products

Alternative Splicing Database (ASD) splice patterns (SP) for ERCC1 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2a · 2b · 2c · 2d ^ 3 ^ 4 ^ 5 ^ 6a · 6b ^ 7 ^ 8 ^ 9a · 9b ^ 10a · 10b · 10c ^ 11a · 11b
SP1: - - - - - -
SP2: - - - - - - - -
SP3: - -
SP4: - - - -
SP5: - - - -
SP6: - - -
SP7: - - -
SP8: - - - - - - - -
SP9: - - -
SP10:

Relevant External Links for ERCC1 Gene

GeneLoc Exon Structure for
ERCC1
ECgene alternative splicing isoforms for
ERCC1

Expression for ERCC1 Gene

mRNA expression in normal human tissues for ERCC1 Gene

Protein differential expression in normal tissues from HIPED for ERCC1 Gene

This gene is overexpressed in Testis (15.9), Ovary (11.9), Retina (11.3), Fetal ovary (8.6), and CD8 Tcells (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ERCC1 Gene



Protein tissue co-expression partners for ERCC1 Gene

NURSA nuclear receptor signaling pathways regulating expression of ERCC1 Gene:

ERCC1

SOURCE GeneReport for Unigene cluster for ERCC1 Gene:

Hs.435981
genes like me logo Genes that share expression patterns with ERCC1: view

Primer Products

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ERCC1 Gene

Orthologs for ERCC1 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ERCC1 Gene

Organism Taxonomy Gene Similarity Type Details
cow
(Bos Taurus)
Mammalia ERCC1 34
  • 85.62 (n)
  • 88.7 (a)
ERCC1 35
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ERCC1 34
  • 86.04 (n)
  • 88.51 (a)
ERCC1 35
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ercc1 34
  • 82.6 (n)
  • 86.2 (a)
Ercc1 16
Ercc1 35
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ERCC1 34
  • 99.44 (n)
  • 100 (a)
ERCC1 35
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ercc1 34
  • 81.48 (n)
  • 83.84 (a)
oppossum
(Monodelphis domestica)
Mammalia ERCC1 35
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERCC1 35
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 68 (a)
OneToMany
-- 35
  • 52 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ercc1 34
  • 66.19 (n)
  • 72.86 (a)
Str.8961 34
African clawed frog
(Xenopus laevis)
Amphibia ercc1-prov 34
zebrafish
(Danio rerio)
Actinopterygii ercc1 34
  • 68.52 (n)
  • 76.77 (a)
ercc1 35
  • 48 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6312 34
fruit fly
(Drosophila melanogaster)
Insecta Ercc1 36
  • 46 (a)
Ercc1 34
  • 55.4 (n)
  • 51.85 (a)
Ercc1 35
  • 43 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004029 34
  • 58.46 (n)
  • 53.27 (a)
worm
(Caenorhabditis elegans)
Secernentea ercc-1 35
  • 27 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD10 35
  • 23 (a)
OneToOne
RAD10 37
thale cress
(Arabidopsis thaliana)
eudicotyledons ERCC1 34
  • 51.82 (n)
  • 51.26 (a)
rice
(Oryza sativa)
Liliopsida Os10g0518900 34
  • 56.38 (n)
  • 54.23 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes swi10 34
  • 55.33 (n)
  • 51.78 (a)
Species where no ortholog for ERCC1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ERCC1 Gene

ENSEMBL:
Gene Tree for ERCC1 (if available)
TreeFam:
Gene Tree for ERCC1 (if available)

Paralogs for ERCC1 Gene

No data available for Paralogs for ERCC1 Gene

Variants for ERCC1 Gene

Sequence variations from dbSNP and Humsavar for ERCC1 Gene

SNP ID Clin Chr 19 pos Sequence Context AA Info Type
rs3212977 - 45,413,724(-) TCGCC(A/C/G)CATCA reference, missense
rs121913028 Cerebro-oculo-facio-skeletal syndrome 4 (COFS4) 45,414,870(-) GACTT(C/G/T)GTCTC reference, synonymous-codon, missense
rs3038784 -- 45,479,925(+) CCTGA(A/T)CCCAG upstream-variant-2KB
rs3043079 -- 45,428,101(+) ttttt(-/TT)gagac intron-variant
rs3188420 -- 45,421,269(-) GTGCC(A/C)CACAG reference, missense

Structural Variations from Database of Genomic Variants (DGV) for ERCC1 Gene

Variant ID Type Subtype PubMed ID
dgv1054e212 CNV gain 25503493
nsv428365 CNV gain+loss 18775914
nsv458711 CNV gain 19166990
nsv579867 CNV gain 21841781
nsv833845 CNV loss 17160897
nsv833846 CNV loss 17160897

Variation tolerance for ERCC1 Gene

Residual Variation Intolerance Score: 51% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 0.74; 15.65% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ERCC1 Gene

Human Gene Mutation Database (HGMD)
ERCC1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERCC1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERCC1 Gene

Disorders for ERCC1 Gene

MalaCards: The human disease database

(21) MalaCards diseases for ERCC1 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cerebrooculofacioskeletal syndrome 4
  • cofs syndrome
cockayne syndrome type ii
  • cockayne syndrome type b
ercc1-related xeroderma pigmentosum
cerebro-oculo-facio-skeletal syndrome
  • cofs syndrome
cockayne syndrome
  • cockayne's syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ERCC1 in MalaCards View complete list of genes associated with diseases

UniProtKB/Swiss-Prot

ERCC1_HUMAN
  • Cerebro-oculo-facio-skeletal syndrome 4 (COFS4) [MIM:610758]: A disorder of prenatal onset characterized by microcephaly, congenital cataracts, facial dysmorphism, neurogenic arthrogryposis, growth failure and severe psychomotor retardation. COFS is considered to be part of the nucleotide-excision repair disorders spectrum that include also xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome. {ECO:0000269 PubMed:17273966, ECO:0000269 PubMed:23623389}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Relevant External Links for ERCC1

Genetic Association Database (GAD)
ERCC1
Human Genome Epidemiology (HuGE) Navigator
ERCC1
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ERCC1
genes like me logo Genes that share disorders with ERCC1: view

No data available for Genatlas for ERCC1 Gene

Publications for ERCC1 Gene

  1. Effects of excision repair cross-complementation group 1 (ERCC1) single nucleotide polymorphisms on the prognosis of non-small cell lung cancer patients. (PMID: 19361884) Takenaka T. … Maehara Y. (Lung Cancer 2010) 3 22 46 65
  2. Common variations in ERCC2 are associated with response to cisplatin chemotherapy and clinical outcome in osteosarcoma patients. (PMID: 19434073) Caronia D. … GonzA!lez-Neira A. (Pharmacogenomics J. 2009) 3 22 46 65
  3. Prediction of response to chemotherapy by ERCC1 immunohistochemistry and ERCC1 polymorphism in ovarian cancer. (PMID: 17961161) Steffensen K.D. … Jakobsen A. (Int. J. Gynecol. Cancer 2008) 3 22 46 65
  4. A distinct ERCC1 haplotype is associated with mRNA expression levels in prostate cancer patients. (PMID: 18332046) Woelfelschneider A. … Schmezer P. (Carcinogenesis 2008) 3 22 46 65
  5. Characterization of functional excision repair cross-complementation group 1 variants and their association with lung cancer risk and prognosis. (PMID: 18451256) Yu D. … Lin D. (Clin. Cancer Res. 2008) 3 22 46 65

Products for ERCC1 Gene

Sources for ERCC1 Gene

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