Ercc5 excision repair cross-complementing rodent repair deficiency, complementation group 5 [Mus musculus (house mouse)] - Gene

Summary

Official Symbol: Ercc5provided by MGI
Official Full Name: excision repair cross-complementing rodent repair deficiency, complementation group 5provided by MGI
Primary source: MGI:MGI:103582
See related: Ensembl:ENSMUSG00000026048 AllianceGenome:MGI:103582
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: Xpg
Summary: Predicted to enable several functions, including DNA binding activity; RNA polymerase II complex binding activity; and protein homodimerization activity. Acts upstream of or within UV protection; determination of adult lifespan; and nucleotide-excision repair. Predicted to be located in chromosome. Predicted to be part of DNA replication factor A complex and nucleotide-excision repair complex. Predicted to be active in nucleus. Is expressed in central nervous system; genitourinary system; and retina. Used to study xeroderma pigmentosum group G. Human ortholog(s) of this gene implicated in several diseases, including cerebrooculofacioskeletal syndrome 3; melanoma; respiratory system cancer (multiple); stomach cancer; and xeroderma pigmentosum group G. Orthologous to human ERCC5 (ERCC excision repair 5, endonuclease). [provided by Alliance of Genome Resources, Nov 2024]
Expression: Ubiquitous expression in CNS E11.5 (RPKM 8.5), CNS E14 (RPKM 6.8) and 25 other tissues See more
Orthologs: human all
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Genomic context

Location:: 1 C1.1; 1 23.55 cM

Exon count:: 15

Annotation release	Status	Assembly	Chr	Location
RS_2024_02	current	GRCm39 (GCF_000001635.27)	1	NC_000067.7 (44184084..44220399)
108.20200622	previous assembly	GRCm38.p6 (GCF_000001635.26)	1	NC_000067.6 (44146948..44181260)

Chromosome 1 - NC_000067.7 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

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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?

HIghlighted in this study is the crucial role of XPG's interactions with TFIIH for proper nucleotide excision repair
Title: Generation of DNA single-strand displacement by compromised nucleotide excision repair.
XPG gene expression can be influenced by an epigenetic mechanism. Restoration of NER activity through XPG gene transfer or treatment with demethylating agents restored sensitivity to nemorubicin.
Title: Down-regulation of the nucleotide excision repair gene XPG as a new mechanism of drug resistance in human and murine cancer cells.
deficiency of exon 15 results in severe growth retardation and short life span
Title: Severe growth retardation and short life span of double-mutant mice lacking Xpa and exon 15 of Xpg.
introduced a point mutation into the XPG gene which inactivates the nuclease catalytic site but leaves the remainder of the protein intact. The mutant mice are hypersensitive to UV irradiation.
Title: Deficiency in the nuclease activity of xeroderma pigmentosum G in mice leads to hypersensitivity to UV irradiation.
Results suggest that the Cockayne syndrome phenotype results from C-terminal truncations in the XPG (xeroderma pigmentosum) gene in mice and humans.
Title: Identification of the XPG region that causes the onset of Cockayne syndrome by using Xpg mutant mice generated by the cDNA-mediated knock-in method.

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Variation

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Alleles

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

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Ercc5 (e-PCR), detects polymorphism
- UniSTS:144799

Ercc5 (e-PCR), detects polymorphism
- UniSTS:144800

AI451477 (e-PCR)
- UniSTS:178387

Gene Ontology Provided by MGI

Function	Evidence Code	Pubs
enables DNA endonuclease activity	IBA Inferred from Biological aspect of Ancestor more info
enables DNA endonuclease activity	ISO Inferred from Sequence Orthology more info
enables RNA polymerase II complex binding	ISO Inferred from Sequence Orthology more info
enables bubble DNA binding	ISO Inferred from Sequence Orthology more info
enables damaged DNA binding	ISO Inferred from Sequence Orthology more info
enables double-stranded DNA binding	ISO Inferred from Sequence Orthology more info
enables endonuclease activity	IEA Inferred from Electronic Annotation more info
enables endonuclease activity	ISO Inferred from Sequence Orthology more info
enables enzyme activator activity	ISO Inferred from Sequence Orthology more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein homodimerization activity	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISO Inferred from Sequence Orthology more info
enables protein-containing complex binding	ISS Inferred from Sequence or Structural Similarity more info
enables single-stranded DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables single-stranded DNA binding	IEA Inferred from Electronic Annotation more info
enables single-stranded DNA binding	ISO Inferred from Sequence Orthology more info

Process	Evidence Code	Pubs
acts_upstream_of_or_within DNA repair	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within UV protection	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of_or_within UV protection	IMP Inferred from Mutant Phenotype more info	PubMed
acts_upstream_of_or_within UV protection	ISO Inferred from Sequence Orthology more info
involved_in base-excision repair, AP site formation	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within determination of adult lifespan	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in double-strand break repair via homologous recombination	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within multicellular organism growth	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in negative regulation of apoptotic process	ISO Inferred from Sequence Orthology more info
acts_upstream_of_or_within nucleotide-excision repair	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nucleotide-excision repair	ISO Inferred from Sequence Orthology more info
involved_in nucleotide-excision repair	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_or_within response to UV	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in response to UV	ISO Inferred from Sequence Orthology more info
involved_in response to UV-C	ISO Inferred from Sequence Orthology more info
involved_in transcription-coupled nucleotide-excision repair	ISO Inferred from Sequence Orthology more info

Component	Evidence Code	Pubs
part_of DNA replication factor A complex	ISO Inferred from Sequence Orthology more info
located_in chromosome	IEA Inferred from Electronic Annotation more info
part_of nucleotide-excision repair complex	ISO Inferred from Sequence Orthology more info
part_of nucleotide-excision repair complex	ISS Inferred from Sequence or Structural Similarity more info
is_active_in nucleus	IBA Inferred from Biological aspect of Ancestor more info
located_in nucleus	ISO Inferred from Sequence Orthology more info
part_of protein-containing complex	ISO Inferred from Sequence Orthology more info

General protein information

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Preferred Names: DNA excision repair protein ERCC-5

Names: DNA repair protein complementing XP-G cells homolog; xeroderma pigmentosum group G-complementing protein homolog; xeroderma pigmentosum, complementation group G

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_011729.3 → NP_035859.2 DNA excision repair protein ERCC-5

Status: VALIDATED

Source sequence(s)

AC123800

Consensus CDS

CCDS35553.1

UniProtKB/Swiss-Prot

P35689, Q61528, Q64248

UniProtKB/TrEMBL

E9QM61

Related

ENSMUSP00000027214.4, ENSMUST00000027214.4

Conserved Domains (1) summary

TIGR00600
Location:1 → 1028

rad2; DNA excision repair protein (rad2)

RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

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

Reference GRCm39 C57BL/6J

Genomic

NC_000067.7 Reference GRCm39 C57BL/6J

Range

44184084..44220399

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

XM_030253066.2 → XP_030108926.1 DNA excision repair protein ERCC-5 isoform X1

UniProtKB/Swiss-Prot

P35689, Q61528, Q64248

Conserved Domains (1) summary

TIGR00600
Location:1 → 860

rad2; DNA excision repair protein (rad2)
XM_036163693.1 → XP_036019586.1 DNA excision repair protein ERCC-5 isoform X1

UniProtKB/Swiss-Prot

P35689, Q61528, Q64248

Conserved Domains (1) summary

TIGR00600
Location:1 → 860

rad2; DNA excision repair protein (rad2)
XM_006495890.4 → XP_006495953.1 DNA excision repair protein ERCC-5 isoform X1

UniProtKB/Swiss-Prot

P35689, Q61528, Q64248

Conserved Domains (1) summary

TIGR00600
Location:1 → 860

rad2; DNA excision repair protein (rad2)