U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Ercc1 excision repair cross-complementing rodent repair deficiency, complementation group 1 [ Mus musculus (house mouse) ]

Gene ID: 13870, updated on 26-Sep-2022

Summary

Official Symbol
Ercc1provided by MGI
Official Full Name
excision repair cross-complementing rodent repair deficiency, complementation group 1provided by MGI
Primary source
MGI:MGI:95412
See related
Ensembl:ENSMUSG00000003549 AllianceGenome:MGI:95412
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Mus musculus
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
Also known as
Ercc-1
Summary
Enables TFIID-class transcription factor complex binding activity and promoter-specific chromatin binding activity. Involved in positive regulation of t-circle formation and t-circle formation. Acts upstream of or within several processes, including DNA metabolic process; UV protection; and gamete generation. Predicted to be located in chromosome, telomeric region and nucleoplasm. Predicted to be part of ERCC4-ERCC1 complex and nucleotide-excision repair factor 1 complex. Is expressed in brain; cerebral cortex; and telencephalon. Used to study XFE progeroid syndrome. Human ortholog(s) of this gene implicated in several diseases, including bone cancer (multiple); carcinoma (multiple); cerebrooculofacioskeletal syndrome 4; hematologic cancer (multiple); and transient cerebral ischemia. Orthologous to human ERCC1 (ERCC excision repair 1, endonuclease non-catalytic subunit). [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in limb E14.5 (RPKM 10.9), subcutaneous fat pad adult (RPKM 10.0) and 28 other tissues See more
Orthologs
NEW
Try the new Gene table
Try the new Transcript table

Genomic context

See Ercc1 in Genome Data Viewer
Location:
7 A3; 7 9.6 cM
Exon count:
10
Annotation release Status Assembly Chr Location
109 current GRCm39 (GCF_000001635.27) 7 NC_000073.7 (19075769..19090449)
108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 7 NC_000073.6 (19344067..19356524)

Chromosome 7 - NC_000073.7Genomic Context describing neighboring genes Neighboring gene FBJ osteosarcoma oncogene B Neighboring gene RIKEN cDNA D830036C21 gene Neighboring gene VISTA enhancer mm567 Neighboring gene CD3E antigen, epsilon polypeptide associated protein Neighboring gene protein phosphatase 1, regulatory subunit 13 like Neighboring gene excision repair cross-complementing rodent repair deficiency, complementation group 2 Neighboring gene microRNA 343

Genomic regions, transcripts, and products

Expression

  • Project title: Mouse ENCODE transcriptome data
  • Description: RNA profiling data sets generated by the Mouse ENCODE project.
  • BioProject: PRJNA66167
  • Publication: PMID 25409824
  • Analysis date: n/a

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Variation

Alleles

Alleles of this type are documented at Mouse Genome Informatics  (MGI)
  • Targeted (8)  1 citation
  • Endonuclease-mediated (1) 

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by MGI

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

General protein information

Preferred Names
DNA excision repair protein ERCC-1

NCBI Reference Sequences (RefSeq)

NEW Try the new Transcript table

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.

mRNA and Protein(s)

  1. NM_001127324.1NP_001120796.1  DNA excision repair protein ERCC-1 isoform b

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks several exons and its 3' terminal exon extends past a splice site used in variant 1. This results in a novel 3' coding region and 3' UTR compared to variant 1. The resulting protein (isoform b) is shorter and has a distinct C-terminus compared to isoform a.
    Source sequence(s)
    AK136733, AK160703, BY240763
    Consensus CDS
    CCDS52057.1
    UniProtKB/Swiss-Prot
    P07903
    UniProtKB/TrEMBL
    E9PUM0
    Related
    ENSMUSP00000125655.2, ENSMUST00000160369.8
    Conserved Domains (1) summary
    pfam03834
    Location:100213
    Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)
  2. NM_007948.2NP_031974.2  DNA excision repair protein ERCC-1 isoform a

    See identical proteins and their annotated locations for NP_031974.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer protein (isoform a).
    Source sequence(s)
    AK136733, BE949768, BY240763
    Consensus CDS
    CCDS20898.1
    UniProtKB/Swiss-Prot
    P07903, Q91VP3
    UniProtKB/TrEMBL
    A0A8C6MR20
    Related
    ENSMUSP00000003645.3, ENSMUST00000003645.9
    Conserved Domains (2) summary
    pfam03834
    Location:100213
    Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)
    pfam14520
    Location:239291
    HHH_5; Helix-hairpin-helix domain

RefSeqs of Annotated Genomes: Mus musculus Annotation Release 109 details...Open this link in a new tab

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

Reference GRCm39 C57BL/6J

Genomic

  1. NC_000073.7 Reference GRCm39 C57BL/6J

    Range
    19075769..19090449
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

RNA

  1. XR_004934007.1 RNA Sequence