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ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit [ Homo sapiens (human) ]

Gene ID: 2067, updated on 19-Jul-2021

Summary

Official Symbol
ERCC1provided by HGNC
Official Full Name
ERCC excision repair 1, endonuclease non-catalytic subunitprovided by HGNC
Primary source
HGNC:HGNC:3433
See related
Ensembl:ENSG00000012061 MIM:126380
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]
Expression
Ubiquitous expression in skin (RPKM 11.1), ovary (RPKM 9.5) and 25 other tissues See more
Orthologs
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Genomic context

See ERCC1 in Genome Data Viewer
Location:
19q13.32
Exon count:
13
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 19 NC_000019.10 (45407334..45451547, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 19 NC_000019.9 (45910592..45954805, complement)

Chromosome 19 - NC_000019.10Genomic Context describing neighboring genes Neighboring gene kinesin light chain 3 Neighboring gene ERCC excision repair 2, TFIIH core complex helicase subunit Neighboring gene protein phosphatase 1 regulatory subunit 13 like Neighboring gene RNA polymerase I subunit G Neighboring gene Sharpr-MPRA regulatory region 13779 Neighboring gene microRNA 6088 Neighboring gene FosB proto-oncogene, AP-1 transcription factor subunit Neighboring gene reticulon 2

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HIV-1 interactions

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

Protein interactions

Protein Gene Interaction Pubs
Vpr vpr Co-immunoprecipitation and glycerol-gradient sedimentation demonstrate that HIV-1 Vpr, VPRBP, DDB1, SLX4, MUS81, EME1, ERCC1, and ERCC4 form a complex PubMed

Go to the HIV-1, Human Interaction Database

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to 3' overhang single-stranded DNA endodeoxyribonuclease activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
contributes_to DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables TFIID-class transcription factor complex binding IEA
Inferred from Electronic Annotation
more info
 
enables damaged DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables damaged DNA binding IDA
Inferred from Direct Assay
more info
PubMed 
enables promoter-specific chromatin binding IEA
Inferred from Electronic Annotation
more info
 
enables protein C-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables protein domain specific binding IPI
Inferred from Physical Interaction
more info
PubMed 
enables single-stranded DNA binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables 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 
Process Evidence Code Pubs
acts_upstream_of_or_within DNA recombination IGI
Inferred from Genetic Interaction
more info
PubMed 
acts_upstream_of_or_within DNA repair IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in UV protection IEA
Inferred from Electronic Annotation
more info
 
involved_in UV-damage excision repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in cell population proliferation IEA
Inferred from Electronic Annotation
more info
 
involved_in double-strand break repair via nonhomologous end joining IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in embryonic organ development IEA
Inferred from Electronic Annotation
more info
 
involved_in interstrand cross-link repair IEA
Inferred from Electronic Annotation
more info
 
involved_in isotype switching IEA
Inferred from Electronic Annotation
more info
 
involved_in male gonad development IEA
Inferred from Electronic Annotation
more info
 
involved_in meiotic mismatch repair IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mitotic recombination IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in mitotic recombination IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in multicellular organism aging IEA
Inferred from Electronic Annotation
more info
 
involved_in multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
involved_in negative regulation of protection from non-homologous end joining at telomere IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in negative regulation of telomere maintenance IMP
Inferred from Mutant Phenotype
more info
PubMed 
acts_upstream_of_or_within nucleotide-excision repair IDA
Inferred from Direct Assay
more info
PubMed 
acts_upstream_of_or_within nucleotide-excision repair IGI
Inferred from Genetic Interaction
more info
PubMed 
involved_in nucleotide-excision repair, DNA incision, 3'-to lesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in nucleotide-excision repair, DNA incision, 5'-to lesion IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in nucleotide-excision repair, DNA incision, 5'-to lesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in oogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in positive regulation of t-circle formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in positive regulation of transcription initiation from RNA polymerase II promoter IEA
Inferred from Electronic Annotation
more info
 
involved_in post-embryonic hemopoiesis IEA
Inferred from Electronic Annotation
more info
 
involved_in pyrimidine dimer repair by nucleotide-excision repair IEA
Inferred from Electronic Annotation
more info
 
involved_in replicative senescence IEA
Inferred from Electronic Annotation
more info
 
involved_in response to X-ray IEA
Inferred from Electronic Annotation
more info
 
involved_in response to cadmium ion IEA
Inferred from Electronic Annotation
more info
 
involved_in response to immobilization stress IEA
Inferred from Electronic Annotation
more info
 
involved_in response to nutrient IEA
Inferred from Electronic Annotation
more info
 
involved_in response to oxidative stress IMP
Inferred from Mutant Phenotype
more info
PubMed 
involved_in response to sucrose IEA
Inferred from Electronic Annotation
more info
 
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
involved_in syncytium formation IEA
Inferred from Electronic Annotation
more info
 
involved_in t-circle formation ISS
Inferred from Sequence or Structural Similarity
more info
 
involved_in telomeric DNA-containing double minutes formation IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
part_of ERCC4-ERCC1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of ERCC4-ERCC1 complex IDA
Inferred from Direct Assay
more info
PubMed 
located_in chromosome, telomeric region IDA
Inferred from Direct Assay
more info
PubMed 
located_in cytoplasm IEA
Inferred from Electronic Annotation
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleoplasm TAS
Traceable Author Statement
more info
 
part_of nucleotide-excision repair complex IDA
Inferred from Direct Assay
more info
PubMed 
part_of nucleotide-excision repair factor 1 complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
part_of nucleotide-excision repair factor 1 complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
DNA excision repair protein ERCC-1
Names
excision repair cross-complementation group 1
excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)

NCBI Reference Sequences (RefSeq)

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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 RefSeqGene

    Range
    59912..76495
    Download
    GenBank, FASTA, Sequence Viewer (Graphics), LRG_305

mRNA and Protein(s)

  1. NM_001166049.2NP_001159521.1  DNA excision repair protein ERCC-1 isoform 3

    See identical proteins and their annotated locations for 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
    Related
    ENSP00000345203.6, ENST00000340192.11
    Conserved Domains (2) summary
    pfam00633
    Location:235264
    HHH; Helix-hairpin-helix motif
    cd22325
    Location:99226
    ERCC1_C-like; Central domain of ERCC1
  2. NM_001369408.1NP_001356337.1  DNA excision repair protein ERCC-1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC139353
    Conserved Domains (2) summary
    PRK00024
    Location:250281
    PRK00024; hypothetical protein; Reviewed
    pfam03834
    Location:100213
    Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)
  3. NM_001369409.1NP_001356338.1  DNA excision repair protein ERCC-1 isoform 1

    Status: REVIEWED

    Source sequence(s)
    AC139353
    Conserved Domains (2) summary
    PRK00024
    Location:250281
    PRK00024; hypothetical protein; Reviewed
    pfam03834
    Location:100213
    Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)
  4. NM_001369410.1NP_001356339.1  DNA excision repair protein ERCC-1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC139353
    Conserved Domains (1) summary
    pfam03834
    Location:100213
    Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)
  5. NM_001369411.1NP_001356340.1  DNA excision repair protein ERCC-1 isoform 4

    Status: REVIEWED

    Source sequence(s)
    AC139353
    Conserved Domains (1) summary
    pfam03834
    Location:100213
    Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)
  6. NM_001369412.1NP_001356341.1  DNA excision repair protein ERCC-1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC092309, AC138128, AC139353
    Conserved Domains (2) summary
    PRK00558
    Location:251291
    uvrC; excinuclease ABC subunit UvrC
    cd22325
    Location:99226
    ERCC1_C-like; Central domain of ERCC1
  7. NM_001369413.1NP_001356342.1  DNA excision repair protein ERCC-1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC092309, AC138128, AC139353
    Conserved Domains (2) summary
    PRK00558
    Location:251291
    uvrC; excinuclease ABC subunit UvrC
    cd22325
    Location:99226
    ERCC1_C-like; Central domain of ERCC1
  8. NM_001369414.1NP_001356343.1  DNA excision repair protein ERCC-1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC092309, AC138128, AC139353
    Related
    ENSP00000467183.1, ENST00000592083.5
    Conserved Domains (2) summary
    PRK00558
    Location:251291
    uvrC; excinuclease ABC subunit UvrC
    cd22325
    Location:99226
    ERCC1_C-like; Central domain of ERCC1
  9. NM_001369415.1NP_001356344.1  DNA excision repair protein ERCC-1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC092309, BM011724, BM453702, BQ227841, BT019806, CN314897
    Related
    ENSP00000468035.1, ENST00000589165.5
    Conserved Domains (2) summary
    PRK00558
    Location:251291
    uvrC; excinuclease ABC subunit UvrC
    cd22325
    Location:99226
    ERCC1_C-like; Central domain of ERCC1
  10. NM_001369416.1NP_001356345.1  DNA excision repair protein ERCC-1 isoform 2

    Status: REVIEWED

    Source sequence(s)
    AC092309, AC139353
    Conserved Domains (2) summary
    PRK00558
    Location:251291
    uvrC; excinuclease ABC subunit UvrC
    cd22325
    Location:99226
    ERCC1_C-like; Central domain of ERCC1
  11. NM_001369417.1NP_001356346.1  DNA excision repair protein ERCC-1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC092309, AC138128, AC139353
    Conserved Domains (2) summary
    pfam00633
    Location:235264
    HHH; Helix-hairpin-helix motif
    cd22325
    Location:99226
    ERCC1_C-like; Central domain of ERCC1
  12. NM_001369418.1NP_001356347.1  DNA excision repair protein ERCC-1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC092309, AC139353
    Conserved Domains (2) summary
    pfam00633
    Location:235264
    HHH; Helix-hairpin-helix motif
    cd22325
    Location:99226
    ERCC1_C-like; Central domain of ERCC1
  13. NM_001369419.1NP_001356348.1  DNA excision repair protein ERCC-1 isoform 3

    Status: REVIEWED

    Source sequence(s)
    AC092309, AC139353
    Related
    ENSP00000468158.1, ENST00000592023.5
    Conserved Domains (2) summary
    pfam00633
    Location:235264
    HHH; Helix-hairpin-helix motif
    cd22325
    Location:99226
    ERCC1_C-like; Central domain of ERCC1
  14. NM_001983.4NP_001974.1  DNA excision repair protein ERCC-1 isoform 2

    See identical proteins and their annotated locations for NP_001974.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) encodes isoform 2.
    Source sequence(s)
    AC092309, AK314884, BC008930, BQ019990, BQ671113
    Consensus CDS
    CCDS12662.1
    UniProtKB/Swiss-Prot
    P07992
    UniProtKB/TrEMBL
    A0A024R0Q6
    Related
    ENSP00000300853.3, ENST00000300853.8
    Conserved Domains (2) summary
    PRK00558
    Location:251291
    uvrC; excinuclease ABC subunit UvrC
    cd22325
    Location:99226
    ERCC1_C-like; Central domain of ERCC1
  15. NM_202001.3NP_973730.1  DNA excision repair protein ERCC-1 isoform 1

    See identical proteins and their annotated locations for 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)
    AC139353, AK314884, BC052813, BU627436, DB468563
    Consensus CDS
    CCDS12663.1
    UniProtKB/Swiss-Prot
    P07992
    Related
    ENSP00000013807.4, ENST00000013807.9
    Conserved Domains (2) summary
    PRK00024
    Location:250281
    PRK00024; hypothetical protein; Reviewed
    pfam03834
    Location:100213
    Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000019.10 Reference GRCh38.p13 Primary Assembly

    Range
    45407334..45451547 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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