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Aliases for ERCC8 Gene

Aliases for ERCC8 Gene

  • Excision Repair Cross-Complementation Group 8 2 3
  • CKN1 3 4 6
  • CSA 3 4 6
  • Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 8 2 3
  • Cockayne Syndrome WD Repeat Protein CSA 3 4
  • UVSS2 3 6
  • Cockayne Syndrome WD-Repeat Protein CSA 3
  • DNA Excision Repair Protein ERCC-8 3
  • Cockayne Syndrome 1 (Classical) 2

External Ids for ERCC8 Gene

Previous Symbols for ERCC8 Gene

  • CKN1

Summaries for ERCC8 Gene

Entrez Gene Summary for ERCC8 Gene

  • This gene encodes a WD repeat protein, which interacts with Cockayne syndrome type B (CSB) protein and with p44 protein, a subunit of the RNA polymerase II transcription factor IIH. Mutations in this gene have been identified in patients with hereditary disease Cockayne syndrome (CS). CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2014]

GeneCards Summary for ERCC8 Gene

ERCC8 (Excision Repair Cross-Complementation Group 8) is a Protein Coding gene. Diseases associated with ERCC8 include uv-sensitive syndrome 2 and cockayne syndrome, type a. Among its related pathways are Chks in Checkpoint Regulation and DNA Repair. GO annotations related to this gene include ubiquitin-protein transferase activity and DNA-dependent ATPase activity.

UniProtKB/Swiss-Prot for ERCC8 Gene

  • Substrate-recognition component of the CSA complex, a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex, involved in transcription-coupled nucleotide excision repair. The CSA complex (DCX(ERCC8) complex) promotes the ubiquitination and subsequent proteasomal degradation of ERCC6 in a UV-dependent manner; ERCC6 degradation is essential for the recovery of RNA synthesis after transcription-coupled repair. It is required for the recruitment of XAB2, HMGN1 and TCEA1/TFIIS to a transcription-coupled repair complex which removes RNA polymerase II-blocking lesions from the transcribed strand of active genes.

Gene Wiki entry for ERCC8 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ERCC8 Gene

Genomics for ERCC8 Gene

Genomic Location for ERCC8 Gene

Start:
60,873,831 bp from pter
End:
60,945,078 bp from pter
Size:
71,248 bases
Orientation:
Minus strand

Genomic View for ERCC8 Gene

UCSC Golden Path with GeneCards custom track
Cytogenetic band:
Genomic Location for ERCC8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ERCC8 Gene

Regulatory Elements for ERCC8 Gene

Proteins for ERCC8 Gene

  • Protein details for ERCC8 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q13216-ERCC8_HUMAN
    Recommended name:
    DNA excision repair protein ERCC-8
    Protein Accession:
    Q13216
    Secondary Accessions:
    • B2RB64
    • Q6FHX5
    • Q96GB9

    Protein attributes for ERCC8 Gene

    Size:
    396 amino acids
    Molecular mass:
    44055 Da
    Quaternary structure:
    • Part of the CSA complex (DCX(ERCC8) complex), a DCX E3 ubiquitin-protein ligase complex containing ERCC8, RBX1, DDB1 and CUL4A; the CSA complex interacts with RNA polymerase II; upon UV irradiation it interacts with the COP9 signalosome and preferentially with the hyperphosphorylated form of RNA polymerase II. Interacts with ERCC6 and KIAA1530/UVSSA. Interacts with a subunit of RNA polymerase II TFIIH. Interacts directly with DDB1 (PubMed:22118460).

    Three dimensional structures from OCA and Proteopedia for ERCC8 Gene

    Alternative splice isoforms for ERCC8 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ERCC8 Gene

Proteomics data for ERCC8 Gene at MOPED

Post-translational modifications for ERCC8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ERCC8 Gene

ENSEMBL proteins:
Reactome Protein details:
REFSEQ proteins:

No data available for DME Specific Peptides for ERCC8 Gene

Domains for ERCC8 Gene

Gene Families for ERCC8 Gene

HGNC:
  • WDR :WD repeat domain containing

UniProtKB/Swiss-Prot:

ERCC8_HUMAN
Similarity:
  • Contains 7 WD repeats.:
    • Q13216
genes like me logo Genes that share domains with ERCC8: view

Function for ERCC8 Gene

Molecular function for ERCC8 Gene

UniProtKB/Swiss-Prot Function: Substrate-recognition component of the CSA complex, a DCX (DDB1-CUL4-X-box) E3 ubiquitin-protein ligase complex, involved in transcription-coupled nucleotide excision repair. The CSA complex (DCX(ERCC8) complex) promotes the ubiquitination and subsequent proteasomal degradation of ERCC6 in a UV-dependent manner; ERCC6 degradation is essential for the recovery of RNA synthesis after transcription-coupled repair. It is required for the recruitment of XAB2, HMGN1 and TCEA1/TFIIS to a transcription-coupled repair complex which removes RNA polymerase II-blocking lesions from the transcribed strand of active genes.

Gene Ontology (GO) - Molecular Function for ERCC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003678 NOT DNA helicase activity IDA 8999876
GO:0004842 contributes_to ubiquitin-protein transferase activity IDA 12732143
GO:0005515 protein binding IPI 10944529
GO:0008094 NOT DNA-dependent ATPase activity IDA 8999876
GO:0032403 protein complex binding IDA 16916636
genes like me logo Genes that share ontologies with ERCC8: view
genes like me logo Genes that share phenotypes with ERCC8: view

Animal Models for ERCC8 Gene

MGI Knock Outs for ERCC8:

miRNA for ERCC8 Gene

miRTarBase miRNAs that target ERCC8

No data available for Enzyme Numbers (IUBMB) , Transcription Factor Targeting and HOMER Transcription for ERCC8 Gene

Localization for ERCC8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERCC8 Gene

Subcellular locations from

COMPARTMENTS
Jensen Localization Image for ERCC8 Gene COMPARTMENTS Subcellular localization image for ERCC8 gene
Compartment Confidence
nucleus 5
cytosol 2

Gene Ontology (GO) - Cellular Components for ERCC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000109 nucleotide-excision repair complex IDA 12732143
GO:0005634 nucleus IDA 11782547
GO:0005654 nucleoplasm TAS --
GO:0016363 nuclear matrix IDA 11782547
GO:0031464 Cul4A-RING E3 ubiquitin ligase complex IDA 12732143
genes like me logo Genes that share ontologies with ERCC8: view

Pathways for ERCC8 Gene

genes like me logo Genes that share pathways with ERCC8: view

UniProtKB/Swiss-Prot Q13216-ERCC8_HUMAN

  • Pathway: Protein modification; protein ubiquitination

Gene Ontology (GO) - Biological Process for ERCC8 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000209 protein polyubiquitination IDA 12732143
GO:0006281 DNA repair TAS --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006289 nucleotide-excision repair TAS --
GO:0006974 cellular response to DNA damage stimulus IDA 11782547
genes like me logo Genes that share ontologies with ERCC8: view

Transcripts for ERCC8 Gene

Unigene Clusters for ERCC8 Gene

Excision repair cross-complementing rodent repair deficiency, complementation group 8:
Representative Sequences:

Alternative Splicing Database (ASD) splice patterns (SP) for ERCC8 Gene

ExUns: 1a · 1b ^ 2 ^ 3 ^ 4a · 4b ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12 ^ 13 ^ 14
SP1: - -
SP2: - - -
SP3: - -
SP4:

Relevant External Links for ERCC8 Gene

GeneLoc Exon Structure for
ERCC8
ECgene alternative splicing isoforms for
ERCC8

Expression for ERCC8 Gene

mRNA expression in normal human tissues for ERCC8 Gene

Integrated Proteomics: protein expression from ProteomicsDB, PaxDb, MOPED, and MaxQB for ERCC8 Gene

SOURCE GeneReport for Unigene cluster for ERCC8 Gene Hs.435237

genes like me logo Genes that share expressions with ERCC8: view

Orthologs for ERCC8 Gene

This gene was present in the common ancestor of eukaryotes.

Orthologs for ERCC8 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ERCC8 36
  • 99.24 (n)
  • 99.24 (a)
ERCC8 37
  • 95 (a)
OneToOne
cow
(Bos Taurus)
Mammalia ERCC8 36
  • 93.1 (n)
  • 94.19 (a)
ERCC8 37
  • 94 (a)
OneToOne
dog
(Canis familiaris)
Mammalia ERCC8 36
  • 92.34 (n)
  • 94.44 (a)
ERCC8 37
  • 94 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ercc8 36
  • 85.77 (n)
  • 89.9 (a)
Ercc8 16
Ercc8 37
  • 90 (a)
OneToOne
oppossum
(Monodelphis domestica)
Mammalia ERCC8 37
  • 86 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia ERCC8 37
  • 84 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Ercc8 36
  • 86.7 (n)
  • 90.66 (a)
chicken
(Gallus gallus)
Aves ERCC8 36
  • 81.1 (n)
  • 83.29 (a)
ERCC8 37
  • 82 (a)
OneToOne
lizard
(Anolis carolinensis)
Reptilia -- 37
  • 79 (a)
OneToMany
-- 37
  • 67 (a)
OneToMany
African clawed frog
(Xenopus laevis)
Amphibia Xl.5566 36
tropical clawed frog
(Silurana tropicalis)
Amphibia ercc8 36
  • 73.48 (n)
  • 76.26 (a)
Str.20460 36
zebrafish
(Danio rerio)
Actinopterygii ercc8 36
  • 69.8 (n)
  • 73.86 (a)
ercc8 37
  • 71 (a)
OneToOne
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD28 37
  • 18 (a)
OneToOne
RAD28 39
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G19750 36
  • 52.87 (n)
  • 40.39 (a)
rice
(Oryza sativa)
Liliopsida Os01g0857900 36
  • 54.93 (n)
  • 44.8 (a)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ckn1 36
  • 46.74 (n)
  • 37.04 (a)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2623 37
  • 37 (a)
OneToOne
Species with no ortholog for ERCC8:
  • 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)
  • fruit fly (Drosophila melanogaster)
  • 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)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • 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)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)
  • worm (Caenorhabditis elegans)

Evolution for ERCC8 Gene

ENSEMBL:
Gene Tree for ERCC8 (if available)
TreeFam:
Gene Tree for ERCC8 (if available)

Paralogs for ERCC8 Gene

No data available for Paralogs for ERCC8 Gene

Variants for ERCC8 Gene

Sequence variations from dbSNP and Humsavar for ERCC8 Gene

SNP ID Clin Chr 05 pos Sequence Context AA Info Type MAF
rs3117 -- 60,874,510(-) AAATG(C/T)GGGTA utr-variant-3-prime
rs158570 -- 60,929,087(-) AATAC(A/G)TTAGG intron-variant
rs158571 -- 60,940,909(+) GAACC(A/G)TGAAA intron-variant
rs158927 -- 60,933,439(+) gtctc(A/G)aactc intron-variant
rs158928 -- 60,932,096(-) CTTTC(C/T)CACTT intron-variant

Structural Variations from Database of Genomic Variants (DGV) for ERCC8 Gene

Variant ID Type Subtype PubMed ID
dgv6076n71 CNV Loss 21882294
dgv6077n71 CNV Loss 21882294
nsv462199 CNV Gain 19166990
nsv462200 CNV Loss 19166990
nsv520871 CNV Loss 19592680
nsv881719 CNV Loss 21882294
esv2673115 CNV Deletion 23128226
nsv881720 CNV Loss 21882294
nsv881721 CNV Loss 21882294

Relevant External Links for ERCC8 Gene

HapMap Linkage Disequilibrium report
ERCC8
Human Gene Mutation Database (HGMD)
ERCC8

Disorders for ERCC8 Gene

(2) OMIM Diseases for ERCC8 Gene (609412)

UniProtKB/Swiss-Prot

ERCC8_HUMAN
  • Cockayne syndrome A (CSA) [MIM:216400]: A rare disorder characterized by cutaneous sensitivity to sunlight, abnormal and slow growth, cachectic dwarfism, progeroid appearance, progressive pigmentary retinopathy and sensorineural deafness. There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. Two clinical forms are recognized: in the classical form or Cockayne syndrome type 1, the symptoms are progressive and typically become apparent within the first few years or life; the less common Cockayne syndrome type 2 is characterized by more severe symptoms that manifest prenatally. Cockayne syndrome shows some overlap with certain forms of xeroderma pigmentosum. Unlike xeroderma pigmentosum, patients with Cockayne syndrome do not manifest increased freckling and other pigmentation abnormalities in the skin and have no significant increase in skin cancer. {ECO:0000269 PubMed:14661080, ECO:0000269 PubMed:15744458, ECO:0000269 PubMed:19894250}. Note=The disease is caused by mutations affecting the gene represented in this entry.
  • UV-sensitive syndrome 2 (UVSS2) [MIM:614621]: An autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors. {ECO:0000269 PubMed:19329487}. Note=The disease is caused by mutations affecting the gene represented in this entry.

(1) University of Copenhagen DISEASES for ERCC8 Gene

(5) Novoseek inferred disease relationships for ERCC8 Gene

Disease -log(P) Hits PubMed IDs
group a cockayne syndrome 98.4 7
cockayne syndrome 95.4 10
xeroderma pigmentosum 78 3
genetic disorder 47.6 2
neurodegenerative diseases 38.2 1

Relevant External Links for ERCC8

GeneTests
ERCC8
GeneReviews
ERCC8
Genetic Association Database (GAD)
ERCC8
Human Genome Epidemiology (HuGE) Navigator
ERCC8
genes like me logo Genes that share disorders with ERCC8: view

Publications for ERCC8 Gene

  1. The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH. (PMID: 7664335) Henning K.A. … Friedberg E.C. (Cell 1995) 3 4 23
  2. Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects. (PMID: 15744458) Ridley A.J. … Jones C.J. (J. Hum. Genet. 2005) 3 4 23
  3. Recognition of RNA polymerase II and transcription bubbles by XPG, CSB, and TFIIH: insights for transcription-coupled repair and Cockayne Syndrome. (PMID: 16246722) Sarker A.H. … Cooper P.K. (Mol. Cell 2005) 3 23
  4. Functional TFIIH is required for UV-induced translocation of CSA to the nuclear matrix. (PMID: 17242193) Saijo M. … Tanaka K. (Mol. Cell. Biol. 2007) 3 23
  5. The role of CSA in the response to oxidative DNA damage in human cells. (PMID: 17297471) D'Errico M. … Dogliotti E. (Oncogene 2007) 3 23

Products for ERCC8 Gene

Sources for ERCC8 Gene

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