Free for academic non-profit institutions. Other users need a Commercial license

Aliases for ERCC5 Gene

Aliases for ERCC5 Gene

  • Excision Repair Cross-Complementation Group 5 2 3
  • XPG 3 4 6
  • Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 5 2 3
  • Xeroderma Pigmentosum, Complementation Group G 2 3
  • DNA Excision Repair Protein ERCC-5 3 4
  • ERCM2 3 4
  • COFS3 3 6
  • XPGC 3 4
  • Xeroderma Pigmentosum Group G-Complementing Protein 4
  • DNA Repair Protein Complementing XP-G Cells 3
  • XPG-Complementing Protein 3
  • Cockayne Syndrome 2
  • EC 3.1.-.- 4
  • ERCC5-201 3
  • UVDR 3

External Ids for ERCC5 Gene

Previous Symbols for ERCC5 Gene

  • ERCM2
  • XPGC

Summaries for ERCC5 Gene

Entrez Gene Summary for ERCC5 Gene

  • This gene encodes a single-strand specific DNA endonuclease that makes the 3' incision in DNA excision repair following UV-induced damage. The protein may also function in other cellular processes, including RNA polymerase II transcription, and transcription-coupled DNA repair. Mutations in this gene cause xeroderma pigmentosum complementation group G (XP-G), which is also referred to as xeroderma pigmentosum VII (XP7), a skin disorder characterized by hypersensitivity to UV light and increased susceptibility for skin cancer development following UV exposure. Some patients also develop Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Read-through transcription exists between this gene and the neighboring upstream BIVM (basic, immunoglobulin-like variable motif containing) gene. [provided by RefSeq, Feb 2011]

GeneCards Summary for ERCC5 Gene

ERCC5 (Excision Repair Cross-Complementation Group 5) is a Protein Coding gene. Diseases associated with ERCC5 include xeroderma pigmentosum, group g and ercc5-related xeroderma pigmentosum. Among its related pathways are Chks in Checkpoint Regulation and DNA Repair. GO annotations related to this gene include protein homodimerization activity and protein N-terminus binding. An important paralog of this gene is BIVM-ERCC5.

UniProtKB/Swiss-Prot for ERCC5 Gene

  • Single-stranded structure-specific DNA endonuclease involved in DNA excision repair. Makes the 3incision in DNA nucleotide excision repair (NER). Acts as a cofactor for a DNA glycosylase that removes oxidized pyrimidines from DNA. May also be involved in transcription-coupled repair of this kind of damage, in transcription by RNA polymerase II, and perhaps in other processes too

Gene Wiki entry for ERCC5 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERCC5 Gene

Genomics for ERCC5 Gene

Genomic Location for ERCC5 Gene

Start:
102,844,844 bp from pter
End:
102,876,001 bp from pter
Size:
31,158 bases
Orientation:
Plus strand

Genomic View for ERCC5 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ERCC5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERCC5 Gene

Regulatory Elements for ERCC5 Gene

Proteins for ERCC5 Gene

  • Protein details for ERCC5 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    P28715-ERCC5_HUMAN
    Recommended name:
    DNA repair protein complementing XP-G cells
    Protein Accession:
    P28715
    Secondary Accessions:
    • A6NGT4
    • Q5JUS4
    • Q5JUS5
    • Q7Z2V3
    • Q8IZL6
    • Q8N1B7
    • Q9HD59
    • Q9HD60

    Protein attributes for ERCC5 Gene

    Size:
    1186 amino acids
    Molecular mass:
    133108 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420; Note=Binds 2 magnesium ions per subunit. They probably participate in the reaction catalyzed by the enzyme. May bind an additional third magnesium ion after substrate binding.;
    Quaternary structure:
    • Interacts with PCNA.

    Alternative splice isoforms for ERCC5 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERCC5 Gene

Proteomics data for ERCC5 Gene at MOPED

Post-translational modifications for ERCC5 Gene

  • Modification sites at PhosphoSitePlus
  • Ubiquitination at Lys172, Lys293, Lys298, Lys313, and Lys433

Other Protein References for ERCC5 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ERCC5 Gene

Domains for ERCC5 Gene

Graphical View of Domain Structure for InterPro Entry

P28715

UniProtKB/Swiss-Prot:

ERCC5_HUMAN
Family:
  • Belongs to the XPG/RAD2 endonuclease family. XPG subfamily.:
    • P28715
genes like me logo Genes that share domains with ERCC5: view

No data available for Gene Families for ERCC5 Gene

Function for ERCC5 Gene

Molecular function for ERCC5 Gene

GENATLAS Biochemistry: excision repair cross-complementing rodent repair defect in CHO cells,complementation group 5,yeast RAD2 homolog (see XPG),deleted in metastatic prostate carcinomas
UniProtKB/Swiss-Prot Function: Single-stranded structure-specific DNA endonuclease involved in DNA excision repair. Makes the 3incision in DNA nucleotide excision repair (NER). Acts as a cofactor for a DNA glycosylase that removes oxidized pyrimidines from DNA. May also be involved in transcription-coupled repair of this kind of damage, in transcription by RNA polymerase II, and perhaps in other processes too

Enzyme Numbers (IUBMB) for ERCC5 Gene

Gene Ontology (GO) - Molecular Function for ERCC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000405 bubble DNA binding IDA 16246722
GO:0003677 DNA binding --
GO:0003690 double-stranded DNA binding IDA 12644470
GO:0003697 single-stranded DNA binding IDA 12644470
GO:0003824 catalytic activity --
genes like me logo Genes that share ontologies with ERCC5: view
genes like me logo Genes that share phenotypes with ERCC5: view

Animal Models for ERCC5 Gene

MGI Knock Outs for ERCC5:

miRNA for ERCC5 Gene

miRTarBase miRNAs that target ERCC5

No data available for Transcription Factor Targeting and HOMER Transcription for ERCC5 Gene

Localization for ERCC5 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERCC5 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ERCC5 Gene COMPARTMENTS Subcellular localization image for ERCC5 gene
Compartment Confidence
nucleus 5

Gene Ontology (GO) - Cellular Components for ERCC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005634 nucleus IDA --
GO:0005654 nucleoplasm TAS --
GO:0005662 colocalizes_with DNA replication factor A complex IDA 7700386
GO:0005675 colocalizes_with holo TFIIH complex IDA 11259578
GO:0016591 colocalizes_with DNA-directed RNA polymerase II, holoenzyme IDA 16246722
genes like me logo Genes that share ontologies with ERCC5: view

Pathways for ERCC5 Gene

genes like me logo Genes that share pathways with ERCC5: view

Pathways by source for ERCC5 Gene

Gene Ontology (GO) - Biological Process for ERCC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000718 nucleotide-excision repair, DNA damage removal TAS --
GO:0000737 DNA catabolic process, endonucleolytic --
GO:0006281 DNA repair TAS --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006289 nucleotide-excision repair TAS --
genes like me logo Genes that share ontologies with ERCC5: view

Compounds for ERCC5 Gene

(8) Novoseek inferred chemical compound relationships for ERCC5 Gene

Compound -log(P) Hits PubMed IDs
thymine glycol 77.2 5
irofulven 67.3 3
ecteinascidin 743 57.1 3
cisplatin 29.7 2
phosphodiester 25.2 1

(1) PharmGKB related drug/compound annotations for ERCC5 Gene

Drug/compound Annotation
platinum CA
genes like me logo Genes that share compounds with ERCC5: view

Transcripts for ERCC5 Gene

mRNA/cDNA for ERCC5 Gene

(1) REFSEQ mRNAs :
(8) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(8) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for ERCC5 Gene

Excision repair cross-complementing rodent repair deficiency, complementation group 5:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ERCC5 Gene

ExUns: 1a · 1b · 1c · 1d ^ 2 ^ 3a · 3b · 3c ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8 ^ 9 ^ 10a · 10b ^ 11 ^ 12a · 12b ^ 13 ^ 14 ^ 15 ^ 16 ^ 17
SP1: - - - - -
SP2: - -
SP3: -
SP4:
SP5: - -
SP6: - - -
SP7:

Relevant External Links for ERCC5 Gene

GeneLoc Exon Structure for
ERCC5
ECgene alternative splicing isoforms for
ERCC5

Expression for ERCC5 Gene

mRNA expression in normal human tissues for ERCC5 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ERCC5 Gene

SOURCE GeneReport for Unigene cluster for ERCC5 Gene Hs.258429

genes like me logo Genes that share expressions with ERCC5: view

No data available for mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ERCC5 Gene

Orthologs for ERCC5 Gene

This gene was present in the common ancestor of animals and fungi.

Orthologs for ERCC5 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ERCC5 35
  • 99.27 (n)
  • 99.16 (a)
cow
(Bos Taurus)
Mammalia ERCC5 35
  • 78.92 (n)
  • 73.5 (a)
ERCC5 36
  • 53 (a)
OneToMany
dog
(Canis familiaris)
Mammalia BIVM 36
  • 54 (a)
OneToMany
ERCC5 35
  • 82.2 (n)
  • 75.77 (a)
mouse
(Mus musculus)
Mammalia Ercc5 35
  • 75.71 (n)
  • 70.06 (a)
Ercc5 16
Ercc5 36
  • 69 (a)
OneToMany
platypus
(Ornithorhynchus anatinus)
Mammalia -- 36
  • 59 (a)
OneToMany
rat
(Rattus norvegicus)
Mammalia Ercc5 35
  • 75.08 (n)
  • 69.25 (a)
chicken
(Gallus gallus)
Aves ERCC5 35
  • 64.14 (n)
  • 60.62 (a)
ERCC5 36
  • 55 (a)
OneToMany
lizard
(Anolis carolinensis)
Reptilia -- 36
  • 56 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia XPGC 35
zebrafish
(Danio rerio)
Actinopterygii ercc5 36
  • 47 (a)
OneToMany
fruit fly
(Drosophila melanogaster)
Insecta mus201 36
  • 25 (a)
OneToMany
mus201 37
  • 41 (a)
worm
(Caenorhabditis elegans)
Secernentea gen-1 36
  • 27 (a)
ManyToMany
xpg-1 36
  • 24 (a)
ManyToMany
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD2 36
  • 23 (a)
OneToMany
sea squirt
(Ciona savignyi)
Ascidiacea -- 36
  • 31 (a)
OneToMany
Species with no ortholog for ERCC5:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • oppossum (Monodelphis domestica)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for ERCC5 Gene

ENSEMBL:
Gene Tree for ERCC5 (if available)
TreeFam:
Gene Tree for ERCC5 (if available)

Paralogs for ERCC5 Gene

Paralogs for ERCC5 Gene

Selected SIMAP similar genes for ERCC5 Gene using alignment to 3 proteins:

genes like me logo Genes that share paralogs with ERCC5: view

Variants for ERCC5 Gene

Sequence variations from dbSNP and Humsavar for ERCC5 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type MAF
VAR_007732 -
VAR_007733 Xeroderma pigmentosum complementation group G (XP-G)
VAR_007734 -
VAR_014829 -
VAR_015280 Xeroderma pigmentosum complementation group G (XP-G)

Structural Variations from Database of Genomic Variants (DGV) for ERCC5 Gene

Variant ID Type Subtype PubMed ID
nsv900972 CNV Loss 21882294
esv2661939 CNV Deletion 23128226

Relevant External Links for ERCC5 Gene

HapMap Linkage Disequilibrium report
ERCC5
Human Gene Mutation Database (HGMD)
ERCC5

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERCC5 Gene

Disorders for ERCC5 Gene

(1) OMIM Diseases for ERCC5 Gene (133530)

UniProtKB/Swiss-Prot

ERCC5_HUMAN
  • Xeroderma pigmentosum complementation group G (XP-G) [MIM:278780]: An autosomal recessive pigmentary skin disorder characterized by solar hypersensitivity of the skin, high predisposition for developing cancers on areas exposed to sunlight and, in some cases, neurological abnormalities. The skin develops marked freckling and other pigmentation abnormalities. Some XP-G patients present features of Cockayne syndrome, cachectic dwarfism, pigmentary retinopathy, ataxia, decreased nerve conduction velocities. The phenotype combining xeroderma pigmentosum and Cockayne syndrome traits is referred to as XP-CS complex. {ECO:0000269 PubMed:11228268, ECO:0000269 PubMed:11841555, ECO:0000269 PubMed:12060391, ECO:0000269 PubMed:7951246, ECO:0000269 PubMed:9096355}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(12) Novoseek inferred disease relationships for ERCC5 Gene

Disease -log(P) Hits PubMed IDs
xeroderma pigmentosum, complementation group g 95.3 5
xeroderma pigmentosum 93.9 27
cockayne syndrome 93.6 14
trichothiodystrophy 82.6 1
cofs syndrome 80.3 1

Relevant External Links for ERCC5

GeneTests
ERCC5
GeneReviews
ERCC5
Genetic Association Database (GAD)
ERCC5
Human Genome Epidemiology (HuGE) Navigator
ERCC5
genes like me logo Genes that share disorders with ERCC5: view

Publications for ERCC5 Gene

  1. XPG protein has a structure-specific endonuclease activity. (PMID: 7651464) Cloud K.G. … Park M.S. (Mutat. Res. 1995) 3 4 23
  2. An ERCC5 gene with homology to yeast RAD2 is involved in group G Xeroderma pigmentosum. (PMID: 7510366) Shiomi T. … Yamaizumi M. (Mutat. Res. 1994) 3 4 23
  3. Mutations that disable the DNA repair gene XPG in a Xeroderma pigmentosum group G patient. (PMID: 7951246) Nouspikel T. … Clarkson S.G. (Hum. Mol. Genet. 1994) 3 4 23
  4. XPG endonuclease makes the 3' incision in human DNA nucleotide excision repair. (PMID: 8090225) O'Donovan A. … Wood R.D. (Nature 1994) 3 4 23
  5. Isolation of active recombinant XPG protein, a human DNA repair endonuclease. (PMID: 8206890) O'Donovan A. … Wood R.D. (J. Biol. Chem. 1994) 3 4 23

Products for ERCC5 Gene

  • Addgene plasmids for ERCC5

Sources for ERCC5 Gene

Back to Top

Content