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ERCC1 excision repair cross-complementation group 1 [ Homo sapiens (human) ]

Gene ID: 2067, updated on 26-Aug-2014
Official Symbol
ERCC1provided by HGNC
Official Full Name
excision repair cross-complementation group 1provided by HGNC
Primary source
HGNC:3433
See related
Ensembl:ENSG00000012061; HPRD:00533; MIM:126380; Vega:OTTHUMG00000182121
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
UV20; COFS4; RAD10
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]
See ERCC1 in Epigenomics, MapViewer
Location:
19q13.32
Exon count:
11
Annotation release Status Assembly Chr Location
106 current GRCh38 (GCF_000001405.26) 19 NC_000019.10 (45407333..45478837, complement)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45910591..45982241, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene kinesin light chain 3 Neighboring gene excision repair cross-complementation group 2 Neighboring gene protein phosphatase 1, regulatory subunit 13 like Neighboring gene CD3e molecule, epsilon associated protein Neighboring gene microRNA 6088 Neighboring gene transfer RNA-SeC (TCA) 1-1 Neighboring gene FBJ murine osteosarcoma viral oncogene homolog B Neighboring gene reticulon 2 Neighboring gene protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Replication interactions

Interaction Pubs
Knockdown of excision repair cross-complementing rodent repair deficiency, complementation group 1 (ERCC1) by siRNA inhibits the early stages of HIV-1 replication in 293T cells infected with VSV-G pseudotyped HIV-1 PubMed

Go to the HIV-1, Human Protein Interaction Database

  • DNA Repair, organism-specific biosystem (from REACTOME)
    DNA Repair, organism-specific biosystemDNA repair is a phenomenal multi-enzyme, multi-pathway system required to ensure the integrity of the cellular genome. These cellular mechanisms that must cope with the plethora of DNA base pair ad...
  • Dual incision reaction in GG-NER, organism-specific biosystem (from REACTOME)
    Dual incision reaction in GG-NER, organism-specific biosystemDual incision at defined positions flanking the DNA damage is carried out by XPG (3' -incision) and ERCC1-XPF (5'-incision) complex. The resulting excised fragment is ~27-30 bp long and contains the...
  • Dual incision reaction in TC-NER, organism-specific biosystem (from REACTOME)
    Dual incision reaction in TC-NER, organism-specific biosystemDual incisions are carried out by XPG, and ERCC1-XPF complex as seen in GG-NER.
  • Fanconi anemia pathway, organism-specific biosystem (from KEGG)
    Fanconi anemia pathway, organism-specific biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Fanconi anemia pathway, conserved biosystem (from KEGG)
    Fanconi anemia pathway, conserved biosystemThe Fanconi anemia pathway is required for the efficient repair of damaged DNA, especially interstrand cross-links (ICLs). DNA ICL is directly recognized by FANCM and associated proteins, that recrui...
  • Formation of incision complex in GG-NER, organism-specific biosystem (from REACTOME)
    Formation of incision complex in GG-NER, organism-specific biosystemBinding of XPC complex to the damaged site on the DNA substrate is followed by XPA and RPA recruitment. XPA is a metalloprotein that binds to different types of DNA damage. Binding of RPA, or Replic...
  • Formation of transcription-coupled NER (TC-NER) repair complex, organism-specific biosystem (from REACTOME)
    Formation of transcription-coupled NER (TC-NER) repair complex, organism-specific biosystemThe 'road block' induced by the DNA damage to the transcription machinery triggers assembly of a transcription couple repair complex, whose composition and function are yet to fully understood. Da...
  • Global Genomic NER (GG-NER), organism-specific biosystem (from REACTOME)
    Global Genomic NER (GG-NER), organism-specific biosystemGG-NER is considered to be transcription-independent, removing lesions from non-transcribed regions of genome in addition to non-transcribed strands of transcribed regions. The three events that char...
  • Nucleotide Excision Repair, organism-specific biosystem (from REACTOME)
    Nucleotide Excision Repair, organism-specific biosystemNER was first described in the model organism E. coli in the early 1960s as a process whereby bulky base damage is enzymatically removed from DNA, facilitating the recovery of DNA synthesis and cell ...
  • Nucleotide excision repair, organism-specific biosystem (from KEGG)
    Nucleotide excision repair, organism-specific biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
  • Nucleotide excision repair, conserved biosystem (from KEGG)
    Nucleotide excision repair, conserved biosystemNucleotide excision repair (NER) is a mechanism to recognize and repair bulky DNA damage caused by compounds, environmental carcinogens, and exposure to UV-light. In humans hereditary defects in the ...
  • Transcription-coupled NER (TC-NER), organism-specific biosystem (from REACTOME)
    Transcription-coupled NER (TC-NER), organism-specific biosystemThe preferential repair of UV-induced damage in transcribed strands of active genes is known as Transcription-coupled NER (TC-NER). Impairment of the ability for TC-NER results in the onset of a sev...
Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
TBP-class protein binding IEA
Inferred from Electronic Annotation
more info
 
TFIID-class transcription factor binding IEA
Inferred from Electronic Annotation
more info
 
damaged DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
single-stranded DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to single-stranded DNA endodeoxyribonuclease activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to structure-specific DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
Process Evidence Code Pubs
DNA catabolic process, endonucleolytic IDA
Inferred from Direct Assay
more info
PubMed 
DNA recombination IGI
Inferred from Genetic Interaction
more info
PubMed 
DNA repair TAS
Traceable Author Statement
more info
 
UV protection IEA
Inferred from Electronic Annotation
more info
 
cell proliferation IEA
Inferred from Electronic Annotation
more info
 
chromosome organization IEA
Inferred from Electronic Annotation
more info
 
double-strand break repair IEA
Inferred from Electronic Annotation
more info
 
embryonic organ development IEA
Inferred from Electronic Annotation
more info
 
isotype switching IEA
Inferred from Electronic Annotation
more info
 
male gonad development IEA
Inferred from Electronic Annotation
more info
 
mitotic recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
multicellular organismal aging IEA
Inferred from Electronic Annotation
more info
 
negative regulation of telomere maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleotide-excision repair IDA
Inferred from Direct Assay
more info
PubMed 
nucleotide-excision repair IGI
Inferred from Genetic Interaction
more info
PubMed 
nucleotide-excision repair TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA damage removal TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA incision, 3'-to lesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
nucleotide-excision repair, DNA incision, 5'-to lesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
oogenesis IEA
Inferred from Electronic Annotation
more info
 
post-embryonic hemopoiesis IEA
Inferred from Electronic Annotation
more info
 
pyrimidine dimer repair by nucleotide-excision repair IEA
Inferred from Electronic Annotation
more info
 
replicative cell aging IEA
Inferred from Electronic Annotation
more info
 
response to X-ray IEA
Inferred from Electronic Annotation
more info
 
response to nutrient IEA
Inferred from Electronic Annotation
more info
 
response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
response to sucrose IEA
Inferred from Electronic Annotation
more info
 
spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
syncytium formation IEA
Inferred from Electronic Annotation
more info
 
transcription-coupled nucleotide-excision repair TAS
Traceable Author Statement
more info
 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
 
nuclear chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
NOT nucleolus IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleotide-excision repair complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
 
transcription factor TFIID complex IEA
Inferred from Electronic Annotation
more info
 
Preferred Names
DNA excision repair protein ERCC-1
Names
DNA excision repair protein ERCC-1
excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_015839.2 

    Range
    59910..76496
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001166049.1NP_001159521.1  DNA excision repair protein ERCC-1 isoform 3

    See proteins identical to NP_001159521.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) lacks an alternate in-frame exon in the 3' coding region, compared to variant 2. The resulting isoform (3) lacks an internal segment, compared to isoform 2.
    Source sequence(s)
    AB069681, AC092309, AK314884, BQ019990, BQ671113
    Consensus CDS
    CCDS54279.1
    UniProtKB/Swiss-Prot
    P07992
    Conserved Domains (2) summary
    TIGR00597
    Location:99210
    Blast Score: 560
    rad10; DNA repair protein rad10
    pfam00633
    Location:235264
    Blast Score: 88
    HHH; Helix-hairpin-helix motif
  2. NM_001983.3NP_001974.1  DNA excision repair protein ERCC-1 isoform 2

    See proteins identical to NP_001974.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) represents the longest transcript and encodes isoform 2.
    Source sequence(s)
    AC092309, AK314884, BC008930, BQ019990, BQ671113
    Consensus CDS
    CCDS12662.1
    UniProtKB/Swiss-Prot
    P07992
    Related
    ENSP00000300853, OTTHUMP00000268423, ENST00000300853, OTTHUMT00000459542
    Conserved Domains (2) summary
    TIGR00597
    Location:99210
    Blast Score: 560
    rad10; DNA repair protein rad10
    pfam14520
    Location:239291
    Blast Score: 102
    HHH_5; Helix-hairpin-helix domain
  3. NM_202001.2NP_973730.1  DNA excision repair protein ERCC-1 isoform 1

    See proteins identical to NP_973730.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents use of an alternate promoter and 5' UTR and uses a distinct splice pattern in the 3' coding region and 3' UTR, compared to variant 2. The resulting isoform (1) has a longer and distinct C-terminus, compared to isoform 2.
    Source sequence(s)
    AK314884, BC052813, BU627436, DB468563
    Consensus CDS
    CCDS12663.1
    UniProtKB/Swiss-Prot
    P07992
    Related
    ENSP00000013807, OTTHUMP00000268429, ENST00000013807, OTTHUMT00000459549
    Conserved Domains (2) summary
    TIGR00597
    Location:99210
    Blast Score: 560
    rad10; DNA repair protein rad10
    pfam14520
    Location:239285
    Blast Score: 92
    HHH_5; Helix-hairpin-helix domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 106

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38 Primary Assembly

Genomic

  1. NC_000019.10 

    Range
    45407333..45478837
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_005258636.2XP_005258693.1  

    See proteins identical to XP_005258693.1

    UniProtKB/Swiss-Prot
    P07992
    Conserved Domains (2) summary
    TIGR00597
    Location:99210
    Blast Score: 560
    rad10; DNA repair protein rad10
    pfam14520
    Location:239285
    Blast Score: 92
    HHH_5; Helix-hairpin-helix domain
  2. XM_005258635.1XP_005258692.1  

    See proteins identical to XP_005258692.1

    UniProtKB/Swiss-Prot
    P07992
    Related
    ENSP00000468035, OTTHUMP00000268428, ENST00000589165, OTTHUMT00000459548
    Conserved Domains (2) summary
    TIGR00597
    Location:99210
    Blast Score: 560
    rad10; DNA repair protein rad10
    pfam14520
    Location:239285
    Blast Score: 92
    HHH_5; Helix-hairpin-helix domain
  3. XM_005258634.1XP_005258691.1  

    See proteins identical to XP_005258691.1

    UniProtKB/Swiss-Prot
    P07992
    Conserved Domains (2) summary
    TIGR00597
    Location:99210
    Blast Score: 560
    rad10; DNA repair protein rad10
    pfam14520
    Location:239285
    Blast Score: 92
    HHH_5; Helix-hairpin-helix domain
  4. XM_005258637.1XP_005258694.1  

    Conserved Domains (2) summary
    TIGR00597
    Location:99210
    Blast Score: 560
    rad10; DNA repair protein rad10
    pfam00633
    Location:235261
    Blast Score: 81
    HHH; Helix-hairpin-helix motif

Alternate HuRef

Genomic

  1. AC_000151.1 

    Range
    42340919..42357653
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate CHM1_1.1

Genomic

  1. NC_018930.2 

    Range
    45913883..45930469
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)