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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]
ERCC8 (ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit) is a Protein Coding gene. Diseases associated with ERCC8 include Cockayne Syndrome A and Uv-Sensitive Syndrome 2. Among its related pathways are Transcription-Coupled Nucleotide Excision Repair (TC-NER) and Chks in Checkpoint Regulation. Gene Ontology (GO) annotations related to this gene include ubiquitin-protein transferase activity and DNA-dependent ATPase activity. An important paralog of this gene is WDR59.
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0003678 | NOT DNA helicase activity | IDA | 8999876 |
GO:0004842 | contributes_to ubiquitin-protein transferase activity | IBA,IDA | 12732143 |
GO:0005515 | protein binding | IEA,IPI | 10944529 |
GO:0008094 | NOT DNA-dependent ATPase activity | IDA | 8999876 |
GO:0044877 | protein-containing complex binding | IDA | 16916636 |
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000109 | nucleotide-excision repair complex | IBA,IDA | 12732143 |
GO:0005634 | nucleus | IDA | 11782547 |
GO:0005654 | nucleoplasm | TAS | -- |
GO:0005737 | cytoplasm | IEA | -- |
GO:0016363 | nuclear matrix | IEA,IDA | 11782547 |
SuperPathway | Contained pathways | ||
---|---|---|---|
1 | Transcription-Coupled Nucleotide Excision Repair (TC-NER) | ||
2 | Nucleotide excision repair |
Nucleotide Excision Repair Pathway
.39
|
|
3 | Ubiquitin mediated proteolysis | ||
4 | Chks in Checkpoint Regulation |
DNA Repair Mechanisms
.31
|
|
5 | DNA Double-Strand Break Repair |
.53
|
GO ID | Qualified GO term | Evidence | PubMed IDs |
---|---|---|---|
GO:0000012 | single strand break repair | IDA | 29545921 |
GO:0000209 | protein polyubiquitination | IDA | 12732143 |
GO:0006281 | DNA repair | IEA | -- |
GO:0006283 | transcription-coupled nucleotide-excision repair | IEA,TAS | -- |
GO:0006289 | nucleotide-excision repair | IMP | 17297471 |
ExUns: | 1a | · | 1b | ^ | 2 | ^ | 3 | ^ | 4a | · | 4b | ^ | 5 | ^ | 6 | ^ | 7 | ^ | 8a | · | 8b | ^ | 9 | ^ | 10 | ^ | 11 | ^ | 12 | ^ | 13 | ^ | 14 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SP1: | - | - | |||||||||||||||||||||||||||||||
SP2: | - | - | - | ||||||||||||||||||||||||||||||
SP3: | - | - | |||||||||||||||||||||||||||||||
SP4: |
This gene was present in the common ancestor of eukaryotes.
Organism | Taxonomy | Gene | Similarity | Type | Details |
---|---|---|---|---|---|
Chimpanzee (Pan troglodytes) |
Mammalia | ERCC8 30 31 |
|
OneToOne | |
Cow (Bos Taurus) |
Mammalia | ERCC8 30 31 |
|
OneToOne | |
Dog (Canis familiaris) |
Mammalia | ERCC8 30 31 |
|
OneToOne | |
Rat (Rattus norvegicus) |
Mammalia | Ercc8 30 |
|
||
Oppossum (Monodelphis domestica) |
Mammalia | ERCC8 31 |
|
OneToOne | |
Mouse (Mus musculus) |
Mammalia | Ercc8 30 17 31 |
|
OneToOne | |
Platypus (Ornithorhynchus anatinus) |
Mammalia | ERCC8 31 |
|
OneToOne | |
Chicken (Gallus gallus) |
Aves | ERCC8 30 31 |
|
OneToOne | |
Lizard (Anolis carolinensis) |
Reptilia | -- 31 |
|
OneToMany | |
-- 31 |
|
OneToMany | |||
Tropical Clawed Frog (Silurana tropicalis) |
Amphibia | ercc8 30 |
|
||
Str.20460 30 |
|
||||
African clawed frog (Xenopus laevis) |
Amphibia | Xl.5566 30 |
|
||
Zebrafish (Danio rerio) |
Actinopterygii | ercc8 30 31 |
|
OneToOne | |
Baker's yeast (Saccharomyces cerevisiae) |
Saccharomycetes | RAD28 31 33 33 |
|
OneToOne | |
Thale Cress (Arabidopsis thaliana) |
eudicotyledons | AT1G19750 30 |
|
||
Rice (Oryza sativa) |
Liliopsida | Os01g0857900 30 |
|
||
Fission Yeast (Schizosaccharomyces pombe) |
Schizosaccharomycetes | ckn1 30 |
|
||
Sea Squirt (Ciona savignyi) |
Ascidiacea | CSA.2623 31 |
|
OneToOne |
SNP ID | Clinical significance and condition | Chr 05 pos | Variation | AA Info | Type |
---|---|---|---|---|---|
635323 | Pathogenic: Cockayne syndrome type A | 60,918,343(-) | C/CCACT | NONSENSE,FIVE_PRIME_UTR_VARIANT | |
640063 | Pathogenic: not provided | 60,899,694(-) | TC/T | FRAMESHIFT_VARIANT | |
645783 | Likely Pathogenic: not provided | 60,904,792(-) | C/T | MISSENSE_VARIANT,INTRON_VARIANT | |
697676 | Benign: not provided | 60,922,092(-) | T/C | SYNONYMOUS_VARIANT,FIVE_PRIME_UTR_VARIANT | |
701917 | Benign: Cockayne syndrome type A; not provided | 60,903,694(-) | T/C | SYNONYMOUS_VARIANT |
Variant ID | Type | Subtype | PubMed ID |
---|---|---|---|
dgv9810n54 | CNV | loss | 21841781 |
dgv9811n54 | CNV | loss | 21841781 |
esv2673115 | CNV | deletion | 23128226 |
esv2762523 | CNV | loss | 21179565 |
esv3605199 | CNV | loss | 21293372 |
nsv1025896 | CNV | loss | 25217958 |
nsv1077987 | CNV | duplication | 25765185 |
nsv1161250 | CNV | deletion | 26073780 |
nsv1161251 | CNV | deletion | 26073780 |
nsv462199 | CNV | gain | 19166990 |
nsv462200 | CNV | loss | 19166990 |
nsv520871 | CNV | loss | 19592680 |
nsv598308 | CNV | gain | 21841781 |
Disorder | Aliases | PubMed IDs |
---|---|---|
cockayne syndrome a |
|
|
uv-sensitive syndrome 2 |
|
|
cockayne syndrome b |
|
|
cockayne syndrome type iii |
|
|
uv-sensitive syndrome |
|
|