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Aliases for ERCC5 Gene

Aliases for ERCC5 Gene

  • Excision Repair Cross-Complementation Group 5 2 3 5
  • 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
  • XPGC 3 4
  • XPG 3 4
  • Xeroderma Pigmentosum Group G-Complementing Protein 4
  • XPG-Complementing Protein 3
  • Cockayne Syndrome 2
  • EC 3.1.-.- 4
  • ERCC5-201 3
  • COFS3 3
  • UVDR 3

External Ids for ERCC5 Gene

Previous HGNC Symbols for ERCC5 Gene

  • ERCM2
  • XPGC

Previous GeneCards Identifiers for ERCC5 Gene

  • GC13P101858
  • GC13P097885
  • GC13P102334
  • GC13P101196
  • GC13P102296
  • GC13P103497
  • GC13P084090
  • GC13P103459

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 cerebrooculofacioskeletal syndrome 3. Among its related pathways are DNA Double-Strand Break Repair and p53 Pathway (RnD). 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

Regulatory Elements for ERCC5 Gene

Promoters for ERCC5 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters

ENSRs around ERCC5 on UCSC Golden Path with GeneCards custom track

Genomic Location for ERCC5 Gene

Chromosome:
13
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

Genes around ERCC5 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERCC5 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERCC5 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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;
    Quaternary structure:
    • Interacts with PCNA.

    Three dimensional structures from OCA and Proteopedia for ERCC5 Gene

    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

  • Ubiquitination at Lys 172, Lys 293, Lys 298, and Lys 313
  • Modification sites at PhosphoSitePlus

Other Protein References for ERCC5 Gene

Antibody Products

No data available for DME Specific Peptides for ERCC5 Gene

Domains & Families for ERCC5 Gene

Gene Families for ERCC5 Gene

Graphical View of Domain Structure for InterPro Entry

P28715

UniProtKB/Swiss-Prot:

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

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:0003690 double-stranded DNA binding IDA 8090225
GO:0003697 single-stranded DNA binding IDA 12644470
GO:0004518 nuclease activity IEA --
GO:0042803 protein homodimerization activity IPI 10026181
genes like me logo Genes that share ontologies with ERCC5: view
genes like me logo Genes that share phenotypes with ERCC5: view

Human Phenotype Ontology for ERCC5 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ERCC5 Gene

MGI Knock Outs for ERCC5:

Animal Model Products

CRISPR Products

miRNA for ERCC5 Gene

miRTarBase miRNAs that target ERCC5

Inhibitory RNA Products

In Situ Assay Products

Flow Cytometry Products

No data available for Transcription Factor Targets 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
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for ERCC5 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005675 colocalizes_with holo TFIIH complex IDA 11259578
genes like me logo Genes that share ontologies with ERCC5: view

Pathways & Interactions 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:0006281 DNA repair IEA --
GO:0006293 nucleotide-excision repair, preincision complex stabilization TAS --
GO:0006296 nucleotide-excision repair, DNA incision, 5-to lesion TAS --
GO:0009650 UV protection IGI 7510366
GO:0033683 nucleotide-excision repair, DNA incision TAS --
genes like me logo Genes that share ontologies with ERCC5: view

No data available for SIGNOR curated interactions for ERCC5 Gene

Drugs & Compounds for ERCC5 Gene

(5) Drugs for ERCC5 Gene - From: Novoseek and PharmGKB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
platinum Pharma 0

(4) Additional Compounds for ERCC5 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
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:

CRISPR Products

Inhibitory RNA Products

Flow Cytometry Products

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

Protein differential expression in normal tissues from HIPED for ERCC5 Gene

This gene is overexpressed in CD8 Tcells (16.3), Peripheral blood mononuclear cells (7.6), and Pancreas (7.0).

Integrated Proteomics: protein expression in normal tissues and cell lines 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 expression patterns with ERCC5: view

Protein tissue co-expression partners for ERCC5 Gene

- Elite partner

Primer Products

In Situ Assay Products

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 36
  • 53 (a)
OneToMany
ERCC5 35
  • 78.92 (n)
  • 73.5 (a)
dog
(Canis familiaris)
Mammalia ERCC5 35
  • 82.2 (n)
  • 75.77 (a)
BIVM 36
  • 54 (a)
OneToMany
mouse
(Mus musculus)
Mammalia Ercc5 16
Ercc5 35
  • 75.71 (n)
  • 70.06 (a)
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 36
  • 55 (a)
OneToMany
ERCC5 35
  • 64.14 (n)
  • 60.62 (a)
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 37
  • 41 (a)
mus201 36
  • 25 (a)
OneToMany
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

(1) 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
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

Variation tolerance for ERCC5 Gene

Residual Variation Intolerance Score: 97.9% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 9.30; 88.25% of all genes are more intolerant (likely to be disease-causing)

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

MalaCards: The human disease database

(17) MalaCards diseases for ERCC5 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
xeroderma pigmentosum, group g
  • xeroderma pigmentosum, group g/cockayne syndrome
cerebrooculofacioskeletal syndrome 3
  • cerebro-oculo-facio-skeletal syndrome 3
ercc5-related xeroderma pigmentosum
cockayne syndrome
  • cockayne's syndrome
xeroderma pigmentosum, variant type
  • de sanctis-cacchione syndrome
- elite association - COSMIC cancer census association via MalaCards
Search ERCC5 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for ERCC5

Genetic Association Database (GAD)
ERCC5
Human Genome Epidemiology (HuGE) Navigator
ERCC5
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ERCC5
genes like me logo Genes that share disorders with ERCC5: view

No data available for Genatlas for ERCC5 Gene

Publications for ERCC5 Gene

  1. The human gene for Xeroderma pigmentosum complementation group G (XPG) maps to 13q33 by fluorescence in situ hybridization. (PMID: 8088806) Samec S. … Clarkson S.G. (Genomics 1994) 2 3 4 67
  2. Association and impact of XPG Asp 1104 His gene polymorphism in HIV 1 disease progression to AIDS among north Indian HIV seropositive individuals. (PMID: 19693700) Sobti R.C. … Wanchu A. (Mol. Biol. Rep. 2010) 3 23
  3. Polymorphisms in XRCC1 and XPG and response to platinum-based chemotherapy in advanced non-small cell lung cancer patients. (PMID: 19157633) Sun X. … Yingfeng Z. (Lung Cancer 2009) 3 23
  4. XPG mRNA expression levels modulate prognosis in resected non-small-cell lung cancer in conjunction with BRCA1 and ERCC1 expression. (PMID: 19289372) Bartolucci R. … Rosell R. (Clin Lung Cancer 2009) 3 23
  5. Sequential recruitment of the repair factors during NER: the role of XPG in initiating the resynthesis step. (PMID: 18079701) Mocquet V. … Egly J.M. (EMBO J. 2008) 3 23

Products for ERCC5 Gene

Sources for ERCC5 Gene

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