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

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: human all
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Genomic context

Location:: 7 A3; 7 9.6 cM

Exon count:: 10

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	7	NC_000073.7 (19079016..19090449)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	7	NC_000073.6 (19344067..19356524)

Chromosome 7 - NC_000073.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Podocyte Ercc1 is indispensable for glomerular integrity.
Title: Podocyte Ercc1 is indispensable for glomerular integrity.
In Vivo Renin Activity Imaging in the Kidney of Progeroid Ercc1 Mutant Mice.
Title: In Vivo Renin Activity Imaging in the Kidney of Progeroid Ercc1 Mutant Mice.
Deficiency in the DNA repair protein ERCC1 triggers a link between senescence and apoptosis in human fibroblasts and mouse skin.
Title: Deficiency in the DNA repair protein ERCC1 triggers a link between senescence and apoptosis in human fibroblasts and mouse skin.
Increased insulin sensitivity and diminished pancreatic beta-cell function in DNA repair deficient Ercc1(d/-) mice.
Title: Increased insulin sensitivity and diminished pancreatic beta-cell function in DNA repair deficient Ercc1(d/-) mice.
analyses indicate that XPF-ERCC1 has important functions outside of its central role in nucleotide excision repair and Fanconi anaemia crosslink repair which are required to prevent endogenous DNA damage; failure to resolve such damage leads to loss of tissue homeostasis in mice and humans
Title: XPF-ERCC1 protects liver, kidney and blood homeostasis outside the canonical excision repair pathways.
ERCC1-deficient cells and mice are hypersensitive to lipid peroxidation (LPO) implicates LPO-induced DNA damage
Title: ERCC1-deficient cells and mice are hypersensitive to lipid peroxidation.
chronic treatment of Ercc1(-/) mice with the mitochondrial-targeted radical scavenger XJB-5-131 attenuated oxidative DNA damage, senescence and age-related pathology.
Title: Spontaneous DNA damage to the nuclear genome promotes senescence, redox imbalance and aging.
Dietary tryptophan restriction increased microbial diversity and made the gut microbiota composition of old Ercc1(-/Delta7) mice more similar to that of young WT mice.
Title: Frontline Science: Tryptophan restriction arrests B cell development and enhances microbial diversity in WT and prematurely aging Ercc1(-/Δ7) mice.
ERCC1-XPF cooperates with CTCF and cohesin to facilitate the developmental silencing of imprinted genes and that persistent DNA damage triggers chromatin changes that affect gene expression programs associated with NER disorders.
Title: ERCC1-XPF cooperates with CTCF and cohesin to facilitate the developmental silencing of imprinted genes.
we quantified the frequency of aneuploidy of three autosomes in the cerebral cortex and cerebellum of adult and developing brain of Bub1b(H/H) mice, which have a faulty mitotic checkpoint, and Ercc1(-/Delta7) mice, defective in nucleotide excision repair and inter-strand crosslink repair. we found that Bub1b(H/H), but not Ercc1(-/Delta7) mice, have a significantly higher frequency of aneuploid nuclei relative to wild-t...
Title: Whole chromosome aneuploidy in the brain of Bub1bH/H and Ercc1-/Δ7 mice.

Submit: New GeneRIF Correction See all GeneRIFs (32)

Variation

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Alleles

Alleles of this type are documented at Mouse Genome Informatics (MGI)

Targeted (8) 1 citation
Endonuclease-mediated (3)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Ercc1 (e-PCR), detects polymorphism
- UniSTS:143006

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
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 binding	IPI Inferred from Physical Interaction more info	PubMed
enables single-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
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 damage response	IMP Inferred from Mutant Phenotype more info	PubMed
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
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 chromosome organization	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within determination of adult lifespan	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 insulin-like growth factor receptor signaling pathway	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 mitotic recombination	IBA Inferred from Biological aspect of Ancestor more info
involved_in mitotic recombination	ISO Inferred from Sequence Orthology more info
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
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
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
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

General protein information

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Preferred Names: DNA excision repair protein ERCC-1

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.

mRNA and Protein(s)

NM_001127324.2 → NP_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)

AC148988

Consensus CDS

CCDS52057.1

UniProtKB/TrEMBL

E9PUM0

Related

ENSMUSP00000125655.2, ENSMUST00000160369.8

Conserved Domains (1) summary

pfam03834
Location:100 → 213

Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)
NM_001412411.1 → NP_001399340.1 DNA excision repair protein ERCC-1 isoform c

Status: VALIDATED

Source sequence(s)

AC148988
NM_007948.3 → NP_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)

AC148988

Consensus CDS

CCDS20898.1

UniProtKB/Swiss-Prot

P07903, Q91VP3

Related

ENSMUSP00000003645.3, ENSMUST00000003645.9

Conserved Domains (2) summary

pfam03834
Location:100 → 213

Rad10; Binding domain of DNA repair protein Ercc1 (rad10/Swi10)

pfam14520
Location:239 → 291

HHH_5; Helix-hairpin-helix domain