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Aliases for ERCC1 Gene

Aliases for ERCC1 Gene

  • Excision Repair Cross-Complementation Group 1 2 3
  • Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 1 (Includes Overlapping Antisense Sequence) 2 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 (Excision Repair Cross-Complementation Group 1) is a Protein Coding gene. Diseases associated with ERCC1 include cerebrooculofacioskeletal syndrome 4 and ercc1-related xeroderma pigmentosum. Among its related pathways are DNA Damage and Chks in Checkpoint Regulation. 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

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

Epigenetics Products

  • DNA Methylation CpG Assay Predesigned for Pyrosequencing in human,mouse,rat

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

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
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

Proteomics data for ERCC1 Gene at MOPED

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

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

No data available for Gene Families for ERCC1 Gene

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:0003677 DNA binding --
GO:0003684 damaged DNA binding IDA 17720715
GO:0003697 single-stranded DNA binding IDA 16076955
genes like me logo Genes that share ontologies with ERCC1: view
genes like me logo Genes that share phenotypes with ERCC1: view

Animal Models for ERCC1 Gene

MGI Knock Outs for ERCC1:

Animal Model Products

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ERCC1

In Situ Assay 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
cytoskeleton 2
cytosol 2

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 --
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

PCR Array Products

Gene Ontology (GO) - Biological Process for ERCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000718 nucleotide-excision repair, DNA damage removal --
GO:0000720 pyrimidine dimer repair by nucleotide-excision repair IEA --
GO:0000724 double-strand break repair via homologous recombination TAS --
GO:0001302 replicative cell aging IEA --
GO:0006281 DNA repair TAS --
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

(40) Drugs for ERCC1 Gene - From: NovoSeek, ClinicalTrials, and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Carboplatin Approved Pharma Antitumor agent that forms platinum-DNA adducts., Platinum 1812
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Platinum, Potent pro-apoptotic anticancer agent; activates caspase-3 2437
Docetaxel Approved May 1996, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 1792
Oxaliplatin Approved, Investigational Pharma Antitumor agent, Platinum 1276
Capecitabine Approved, Investigational Pharma RNA processing inhibitor and thymidylate synthase inhibitor, F-pyrimidines 1179

(14) Additional Compounds for ERCC1 Gene - From: NovoSeek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
5fluorouracil
BCNU
benzo(a)pyrene
Creatinine
  • 1-Methylglycocyamidine
  • 1-Methylhydantoin-2-imide
  • 2-Amino-1-methyl-1,5-dihydroimidazol-4-one
  • 2-Amino-1-methylimidazolin-4-one
  • Creatine anhydride
60-27-5
dihydrofolate
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:

miRNA Products

Inhibitory RNA Products

  • Predesigned siRNA for gene silencing in human,mouse,rat for ERCC1

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, MOPED, and MaxQB for ERCC1 Gene



SOURCE GeneReport for Unigene cluster for ERCC1 Gene Hs.435981

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

Protein tissue co-expression partners for ERCC1 Gene

Primer Products

In Situ Assay 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 35
  • 85.62 (n)
  • 88.7 (a)
ERCC1 36
  • 85 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ERCC1 35
  • 86.04 (n)
  • 88.51 (a)
ERCC1 36
  • 82 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ercc1 35
  • 82.6 (n)
  • 86.2 (a)
Ercc1 16
Ercc1 36
  • 83 (a)
OneToOne
chimpanzee
(Pan troglodytes)
Mammalia ERCC1 35
  • 99.44 (n)
  • 100 (a)
ERCC1 36
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ercc1 35
  • 81.48 (n)
  • 83.84 (a)
oppossum
(Monodelphis domestica)
Mammalia ERCC1 36
  • 53 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERCC1 36
  • 62 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 68 (a)
OneToMany
-- 36
  • 52 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ercc1 35
  • 66.19 (n)
  • 72.86 (a)
Str.8961 35
African clawed frog
(Xenopus laevis)
Amphibia ercc1-prov 35
zebrafish
(Danio rerio)
Actinopterygii ercc1 35
  • 68.52 (n)
  • 76.77 (a)
ercc1 36
  • 48 (a)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6312 35
fruit fly
(Drosophila melanogaster)
Insecta Ercc1 37
  • 46 (a)
Ercc1 35
  • 55.4 (n)
  • 51.85 (a)
Ercc1 36
  • 43 (a)
OneToOne
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004029 35
  • 58.46 (n)
  • 53.27 (a)
worm
(Caenorhabditis elegans)
Secernentea ercc-1 36
  • 27 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD10 36
  • 23 (a)
OneToOne
RAD10 38
thale cress
(Arabidopsis thaliana)
eudicotyledons ERCC1 35
  • 51.82 (n)
  • 51.26 (a)
rice
(Oryza sativa)
Liliopsida Os10g0518900 35
  • 56.38 (n)
  • 54.23 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes swi10 35
  • 55.33 (n)
  • 51.78 (a)
Species with no ortholog for ERCC1:
  • 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 MAF
rs11615 -- 45,420,395(-) CGCAA(C/T)GTGCC synonymous-codon, reference
rs957757 -- 45,428,246(+) cctgg(C/G)caact intron-variant
rs957758 -- 45,428,184(+) gctca(A/G)atgat intron-variant
rs1018765 -- 45,451,943(+) TTCTG(G/T)TTCTG intron-variant
rs1319052 -- 45,427,963(+) TTAAC(A/G)TTAGT intron-variant

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

Variant ID Type Subtype PubMed ID
nsv833845 CNV Loss 17160897
nsv458711 CNV Gain 19166990
nsv428365 CNV Gain+Loss 18775914
nsv833846 CNV Loss 17160897
nsv912154 CNV Loss 21882294

Variation tolerance for ERCC1 Gene

Residual Variation Intolerance Score: 50.97% 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

HapMap Linkage Disequilibrium report
ERCC1
Human Gene Mutation Database (HGMD)
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
ercc1-related xeroderma pigmentosum
cockayne syndrome type ii
  • cerebrooculofacio-skeletal syndrome 1
xeroderma pigmentosum, group f
  • xeroderma pigmentosum, type f/cockayne syndrome
pulmonary neuroendocrine tumor
  • lung neuroendocrine neoplasm
- elite association
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) 23 67
  2. ERCC1 and XPF expression in human testicular germ cell tumors. (PMID: 19956886) KAPberle B. … Kaina B. (Oncol. Rep. 2010) 23 67
  3. Predictive and prognostic values of tau and ERCC1 in advanced breast cancer patients treated with paclitaxel and cisplatin. (PMID: 20085902) Shao Y.Y. … Cheng A.L. (Jpn. J. Clin. Oncol. 2010) 23 67
  4. Features of potentially predictive biomarkers of chemotherapeutic efficacy in small cell lung cancer. (PMID: 20107425) Chiappori A.A. … Bepler G. (J Thorac Oncol 2010) 23 67
  5. Metastases of squamous cell carcinoma of the head and neck show increased levels of nucleotide excision repair protein XPF in vivo that correlate with increased chemoresistance ex vivo. (PMID: 20372803) KAPberle B. … Albers A.E. (Int. J. Oncol. 2010) 23 67

Products for ERCC1 Gene

Sources for ERCC1 Gene

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