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... See more...

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 4
  • 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]

CIViC Summary for ERCC1 Gene

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. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Cyclophosphamide Pathway, Pharmacodynamics. Gene Ontology (GO) annotations related to this gene include protein domain specific binding and single-stranded DNA binding.

UniProtKB/Swiss-Prot Summary 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

Additional gene information for ERCC1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for ERCC1 Gene

Genomics for ERCC1 Gene

GeneHancer (GH) Regulatory Elements for ERCC1 Gene

Promoters and enhancers for ERCC1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around ERCC1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ERCC1 gene promoter:
  • AP-1
  • ATF-2
  • c-Jun

Genomic Locations for ERCC1 Gene

Genomic Locations for ERCC1 Gene
chr19:45,407,333-45,478,828
(GRCh38/hg38)
Size:
71,496 bases
Orientation:
Minus strand
chr19:45,910,591-45,982,086
(GRCh37/hg19)
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 Lys162
  • Modification sites at PhosphoSitePlus

Antibody Products

  • Abcam antibodies for ERCC1

No data available for DME Specific Peptides for ERCC1 Gene

Domains & Families for ERCC1 Gene

Gene Families for ERCC1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Disease related genes
  • Predicted intracellular proteins

Suggested Antigen Peptide Sequences for ERCC1 Gene

GenScript: Design optimal peptide antigens:
  • cDNA FLJ34720 fis, clone MESAN2005724, highly similar to DNA EXCISION REPAIR PROTEIN ERCC-1 (B3KRR0_HUMAN)
  • DNA excision repair protein ERCC-1 (ERCC1_HUMAN)
  • ERCC1 protein (Q16456_HUMAN)
  • Excision repair protein (Q8WWH8_HUMAN)

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

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.
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

Phenotypes From GWAS Catalog for ERCC1 Gene

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 complex binding IEA --
GO:0003677 contributes_to DNA binding IEA,IDA 14734547
GO:0003684 damaged DNA binding IEA,IDA 17720715
GO:0003697 single-stranded DNA binding IBA,IDA 16076955
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

miRNA for ERCC1 Gene

miRTarBase miRNAs that target ERCC1

Clone 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
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ERCC1 gene
Compartment Confidence
nucleus 5
cytosol 5
cytoskeleton 1
mitochondrion 1

Subcellular locations from the

Human Protein Atlas (HPA)

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 IBA,IDA 10413517
GO:0000784 nuclear chromosome, telomeric region IDA 14690602
GO:0005634 nucleus IEA --
GO:0005654 nucleoplasm IDA,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

2 Qiagen pathways for ERCC1 Gene
  • DNA Repair Mechanisms
  • Nucleotide Excision Repair Pathway
1 Cell Signaling Technology pathway for ERCC1 Gene

Gene Ontology (GO) - Biological Process for ERCC1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000710 meiotic mismatch repair IBA 21873635
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 --
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

(56) 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 2418
Cisplatin Approved Pharma Inhibits DNA synthesis,chemotherapy drug, Potent pro-apoptotic anticancer agent; activates caspase-3, Platinum 3240
Docetaxel Approved, Investigational Pharma Microtubulin disassembly inhibitor, Tubulin and VEGF inhibitor, Taxanes 2231
Gemcitabine Approved Pharma Ribonucleotide reductase and DNA synthesis inhibitor, Nucleoside Analogs 2336
Oxaliplatin Approved, Investigational Pharma Antitumor agent, Platinum 1803

(13) 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

CRISPR Products

Clone 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 from GTEx, Illumina, BioGPS, and CGAP SAGE 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, 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

Evidence on tissue expression from TISSUES for ERCC1 Gene

  • Nervous system(4.7)
  • Lung(4.6)
  • Blood(2.8)
  • Intestine(2.6)
  • Lymph node(2.4)
  • Skin(2.4)
  • Liver(2.2)
  • Muscle(2.1)

Phenotype-based relationships between genes and organs from Gene ORGANizer for ERCC1 Gene

Germ Layers:
  • ectoderm
  • endoderm
  • mesoderm
Systems:
  • cardiovascular
  • digestive
  • endocrine
  • immune
  • integumentary
  • lymphatic
  • nervous
  • reproductive
  • respiratory
  • skeletal muscle
  • skeleton
  • urinary
Regions:
Head and neck:
  • brain
  • cerebellum
  • chin
  • cranial nerve
  • ear
  • eye
  • eyelid
  • face
  • forehead
  • head
  • jaw
  • lacrimal apparatus
  • lip
  • mandible
  • maxilla
  • mouth
  • neck
  • nose
  • outer ear
  • pituitary gland
  • skull
  • tooth
Thorax:
  • breast
  • chest wall
  • clavicle
  • heart
  • heart valve
  • lung
  • rib
  • rib cage
  • scapula
  • sternum
  • thymus
Abdomen:
  • kidney
  • liver
  • spleen
Pelvis:
  • ovary
  • pelvis
  • penis
  • prostate
  • testicle
  • ureter
  • urinary bladder
  • uterus
  • vagina
  • vulva
Limb:
  • ankle
  • arm
  • digit
  • elbow
  • femur
  • fibula
  • finger
  • foot
  • forearm
  • hand
  • hip
  • humerus
  • knee
  • lower limb
  • radius
  • shin
  • shoulder
  • thigh
  • tibia
  • toe
  • ulna
  • upper limb
  • wrist
General:
  • blood
  • blood vessel
  • coagulation system
  • hair
  • peripheral nerve
  • peripheral nervous system
  • skin
  • spinal column
  • spinal cord
  • sweat gland
  • vertebrae
genes like me logo Genes that share expression patterns with ERCC1: view

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
chimpanzee
(Pan troglodytes)
Mammalia ERCC1 33 32
  • 99.44 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ERCC1 33 32
  • 86.04 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ERCC1 33 32
  • 85.62 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Ercc1 17 33 32
  • 82.6 (n)
rat
(Rattus norvegicus)
Mammalia Ercc1 32
  • 81.48 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ERCC1 33
  • 62 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ERCC1 33
  • 53 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 33
  • 68 (a)
OneToMany
-- 33
  • 52 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ercc1 32
  • 66.19 (n)
Str.8961 32
African clawed frog
(Xenopus laevis)
Amphibia ercc1-prov 32
zebrafish
(Danio rerio)
Actinopterygii ercc1 33 32
  • 68.52 (n)
OneToOne
rainbow trout
(Oncorhynchus mykiss)
Actinopterygii Omy.6312 32
African malaria mosquito
(Anopheles gambiae)
Insecta AgaP_AGAP004029 32
  • 58.46 (n)
fruit fly
(Drosophila melanogaster)
Insecta Ercc1 33 34 32
  • 55.4 (n)
OneToOne
worm
(Caenorhabditis elegans)
Secernentea ercc-1 33
  • 27 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD10 35 33
  • 23 (a)
thale cress
(Arabidopsis thaliana)
eudicotyledons ERCC1 32
  • 51.82 (n)
rice
(Oryza sativa)
Liliopsida Os10g0518900 32
  • 56.38 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes swi10 32
  • 55.33 (n)
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)
Aminode:
Evolutionary constrained regions (ECRs) for ERCC1: view image

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 Variation AA Info Type
rs11615 drug-response, benign, platinum response - Efficacy, Toxicity/ADR, carboplatin response - Efficacy, Toxicity/ADR, Platinum compounds response - Efficacy, Toxicity/ADR, cisplatin response - Efficacy, Toxicity/ADR, oxaliplatin response - Efficacy, Toxicity/ADR, Xeroderma pigmentosum 45,420,395(-) A/G coding_sequence_variant, synonymous_variant
rs116640350 likely-benign, benign, Xeroderma pigmentosum, not provided 45,413,645(-) C/G/T coding_sequence_variant, intron_variant, missense_variant, stop_gained
rs121913027 pathogenic, Cerebrooculofacioskeletal syndrome 4 45,419,151(-) G/A coding_sequence_variant, stop_gained
rs121913028 pathogenic, Cerebrooculofacioskeletal syndrome 4, Cockayne syndrome, Cerebro-oculo-facio-skeletal syndrome 4 (COFS4) [MIM:610758] 45,414,870(-) G/A/C coding_sequence_variant, missense_variant, synonymous_variant
rs1231361408 uncertain-significance, Xeroderma pigmentosum, group D 45,421,376(-) TC/TCTC coding_sequence_variant, frameshift

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)

Additional Variant Information for ERCC1 Gene

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

SNP Genotyping and Copy Number Assay Products

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

Disorders for ERCC1 Gene

MalaCards: The human disease database

(30) MalaCards diseases for ERCC1 Gene - From: HGMD, OMIM, ClinVar, GTR, Orphanet, DISEASES, Novoseek, and GeneCards