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Aliases for ERCC8 Gene

Aliases for ERCC8 Gene

  • ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit 2 3 5
  • Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 8 2 3
  • Excision Repair Cross-Complementation Group 8 2 3
  • Cockayne Syndrome WD Repeat Protein CSA 3 4
  • CKN1 3 4
  • CSA 3 4
  • Cockayne Syndrome WD-Repeat Protein CSA 3
  • DNA Excision Repair Protein ERCC-8 3
  • Cockayne Syndrome 1 (Classical) 2
  • UVSS2 3

External Ids for ERCC8 Gene

Previous HGNC Symbols for ERCC8 Gene

  • CKN1

Previous GeneCards Identifiers for ERCC8 Gene

  • GC00U990095
  • GC05M060206
  • GC05M060169
  • GC05M057127

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 (ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit) is a Protein Coding gene. Diseases associated with ERCC8 include Cockayne Syndrome, Type A and Uv-Sensitive Syndrome 2. Among its related pathways are Nucleotide excision repair and Transcription-Coupled Nucleotide Excision Repair (TC-NER). 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

Regulatory Elements for ERCC8 Gene

Enhancers for ERCC8 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH05F060943 1.5 FANTOM5 ENCODE 13 +0.1 51 3.2 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A ZNF2 YY1 ZNF548 FOS CAB39P1 ENSG00000248199 ZSWIM6 ELOVL7 ERCC8 NDUFAF2 LOC105378991
GH05F061050 1 Ensembl ENCODE 13.5 -107.3 -107314 4.6 JUN FEZF1 ZEB1 ZNF366 PRDM10 FOS ZBTB20 TCF7L2 STAT1 ZNF362 ERCC8 RNU6-913P NDUFAF2 GC05P061100
GH05F060820 1 ENCODE 13.3 +124.0 124041 2.0 PKNOX1 ATF1 ARNT ELK1 GATA2 NCOA1 MBD2 MEF2D SMARCA4 PBX2 ELOVL7 ERCC8 DEPDC1B KRT8P31
GH05F060842 1 ENCODE 12.5 +101.0 101011 2.4 ZFP64 ARID4B SIN3A ZNF2 ZNF121 GLIS2 FOS ZNF263 SP3 SP5 ERCC8 NDUFAF2 ELOVL7 KRT8P31
GH05F060976 0.9 ENCODE 12.9 -33.1 -33072 3.6 HDAC1 PKNOX1 CBX3 ARNT TBL1XR1 ZFP64 RAD21 CHAMP1 GATA2 CREM ERCC8 ELOVL7 NDUFAF2 GC05P061100
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around ERCC8 on UCSC Golden Path with GeneCards custom track

Promoters for ERCC8 Gene
Ensembl Regulatory Elements (ENSRs) TSS Distance (bp) Size (bp) Binding Sites for Transcription Factors within promoters
ENSR00001409814 -222 3001 HDGF PKNOX1 CREB3L1 WRNIP1 ARID4B SIN3A ZNF2 YY1 ZNF548 FOS

Genomic Location for ERCC8 Gene

Chromosome:
5
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

Genes around ERCC8 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ERCC8 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ERCC8 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence 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

Post-translational modifications for ERCC8 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for ERCC8 Gene

No data available for DME Specific Peptides for ERCC8 Gene

Domains & Families for ERCC8 Gene

Graphical View of Domain Structure for InterPro Entry

Q13216

UniProtKB/Swiss-Prot:

ERCC8_HUMAN :
  • Contains 7 WD repeats.
Similarity:
  • Contains 7 WD repeats.
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

Human Phenotype Ontology for ERCC8 Gene

HPO Id HPO Name Alternative Ids Definition Synonyms

Animal Models for ERCC8 Gene

MGI Knock Outs for ERCC8:

Animal Model Products

Inhibitory RNA Products

Flow Cytometry Products

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

Localization for ERCC8 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ERCC8 Gene

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
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 & Interactions 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 IEA --
GO:0006283 transcription-coupled nucleotide-excision repair TAS --
GO:0006289 nucleotide-excision repair IMP 17297471
GO:0006974 cellular response to DNA damage stimulus IEA,IDA 11782547
genes like me logo Genes that share ontologies with ERCC8: view

No data available for SIGNOR curated interactions for ERCC8 Gene

Transcripts for ERCC8 Gene

Unigene Clusters for ERCC8 Gene

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

Inhibitory RNA Products

Flow Cytometry Products

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 from GTEx, Illumina, BioGPS, and SAGE for ERCC8 Gene

Protein differential expression in normal tissues from HIPED for ERCC8 Gene

This gene is overexpressed in Adipocyte (29.0), Brain (20.1), and Urinary Bladder (17.8).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, PaxDb, MaxQB, and MOPED for ERCC8 Gene



Protein tissue co-expression partners for ERCC8 Gene

NURSA nuclear receptor signaling pathways regulating expression of ERCC8 Gene:

ERCC8

SOURCE GeneReport for Unigene cluster for ERCC8 Gene:

Hs.435237
genes like me logo Genes that share expression patterns with ERCC8: view

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues and mRNA Expression by UniProt/SwissProt for ERCC8 Gene

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 34 35
  • 99.24 (n)
cow
(Bos Taurus)
Mammalia ERCC8 34 35
  • 93.1 (n)
dog
(Canis familiaris)
Mammalia ERCC8 34 35
  • 92.34 (n)
rat
(Rattus norvegicus)
Mammalia Ercc8 34
  • 86.7 (n)
oppossum
(Monodelphis domestica)
Mammalia ERCC8 35
  • 86 (a)
OneToOne
mouse
(Mus musculus)
Mammalia Ercc8 34 16 35
  • 85.77 (n)
platypus
(Ornithorhynchus anatinus)
Mammalia ERCC8 35
  • 84 (a)
OneToOne
chicken
(Gallus gallus)
Aves ERCC8 34 35
  • 81.1 (n)
lizard
(Anolis carolinensis)
Reptilia -- 35
  • 79 (a)
OneToMany
-- 35
  • 67 (a)
OneToMany
tropical clawed frog
(Silurana tropicalis)
Amphibia ercc8 34
  • 73.48 (n)
Str.20460 34
African clawed frog
(Xenopus laevis)
Amphibia Xl.5566 34
zebrafish
(Danio rerio)
Actinopterygii ercc8 34 35
  • 69.8 (n)
baker's yeast
(Saccharomyces cerevisiae)
Saccharomycetes RAD28 35 37
  • 18 (a)
OneToOne
thale cress
(Arabidopsis thaliana)
eudicotyledons AT1G19750 34
  • 52.87 (n)
rice
(Oryza sativa)
Liliopsida Os01g0857900 34
  • 54.93 (n)
fission yeast
(Schizosaccharomyces pombe)
Schizosaccharomycetes ckn1 34
  • 46.74 (n)
sea squirt
(Ciona savignyi)
Ascidiacea CSA.2623 35
  • 37 (a)
OneToOne
Species where no ortholog for ERCC8 was found in the sources mined by GeneCards:
  • 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
rs121434325 Cockayne syndrome A (CSA) [MIM:216400], Pathogenic 60,904,794(-) GGTAG(C/T)AGGTT intron-variant, reference, missense
rs121434326 Cockayne syndrome A (CSA) [MIM:216400], Pathogenic 60,902,446(-) CAACA(C/G)CAAGG reference, missense
rs281875221 UV-sensitive syndrome 2 (UVSS2) [MIM:614621], Pathogenic 60,887,479(-) GCTTG(G/T)GTTCC reference, missense
rs281875222 Cockayne syndrome A (CSA) [MIM:216400], untested 60,904,795(-) TGGTA(A/G)CAGGT intron-variant, reference, missense
rs281875223 Cockayne syndrome A (CSA) [MIM:216400], untested 60,902,477(-) TCCTG(C/G)TCTCC reference, missense

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

Variant ID Type Subtype PubMed ID
nsv598308 CNV gain 21841781
nsv520871 CNV loss 19592680
nsv462200 CNV loss 19166990
nsv462199 CNV gain 19166990
nsv1161251 CNV deletion 26073780
nsv1161250 CNV deletion 26073780
nsv1077987 CNV duplication 25765185
nsv1025896 CNV loss 25217958
esv3605199 CNV loss 21293372
esv2762523 CNV loss 21179565
esv2673115 CNV deletion 23128226
dgv9811n54 CNV loss 21841781
dgv9810n54 CNV loss 21841781

Variation tolerance for ERCC8 Gene

Residual Variation Intolerance Score: 53.2% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.78; 79.01% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for ERCC8 Gene

Human Gene Mutation Database (HGMD)
ERCC8
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ERCC8

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ERCC8 Gene

Disorders for ERCC8 Gene

MalaCards: The human disease database

(10) MalaCards diseases for ERCC8 Gene - From: OMIM, ClinVar, GeneTests, Orphanet, Swiss-Prot, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cockayne syndrome, type a
  • csa
uv-sensitive syndrome 2
  • uvss2
cockayne syndrome type i
  • cockayne syndrome classic form
ercc8-related cockayne syndrome
  • cockayne syndrome type a
cockayne syndrome type iii
  • cockayne syndrome type 3
- elite association - COSMIC cancer census association via MalaCards
Search ERCC8 in MalaCards View complete list of genes associated with diseases

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.

Relevant External Links for ERCC8

Genetic Association Database (GAD)
ERCC8
Human Genome Epidemiology (HuGE) Navigator
ERCC8
Atlas of Genetics and Cytogenetics in Oncology and Haematology:
ERCC8
genes like me logo Genes that share disorders with ERCC8: view

No data available for Genatlas for ERCC8 Gene

Publications for ERCC8 Gene

  1. 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 22 64
  2. 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 22 64
  3. Mutations in UVSSA cause UV-sensitive syndrome and destabilize ERCC6 in transcription-coupled DNA repair. (PMID: 22466612) Zhang X. … Tanaka K. (Nat. Genet. 2012) 3 4 64
  4. Comprehensive screen of genetic variation in DNA repair pathway genes and postmenopausal breast cancer risk. (PMID: 20496165) Monsees G.M. … Han J. (Breast Cancer Res. Treat. 2011) 3 46 64
  5. Variation within DNA repair pathway genes and risk of multiple sclerosis. (PMID: 20522537) Briggs F.B. … Barcellos L.F. (Am. J. Epidemiol. 2010) 3 46 64

Products for ERCC8 Gene

Sources for ERCC8 Gene

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