| URN | urn:agi-llid:1161 |
|---|---|
| Connectivity | 7 |
| Name | Ercc8 |
| Description | excision repair cross-complementing rodent repair deficiency, complementation group 8 |
| Notes | 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. [provided by RefSeq] |
| Pathway | nucleotide excision repair pathway |
|---|
| GO Molecular Function | protein complex binding |
|---|---|
| ubiquitin-protein ligase activity | |
| DNA helicase activity | |
| DNA-dependent ATPase activity |
| GO Cellular Component | protein complex |
|---|---|
| soluble fraction | |
| Cul4A-RING ubiquitin ligase complex | |
| nucleoplasm | |
| nucleotide-excision repair complex | |
| nuclear matrix | |
| nucleus |
| GO Biological Process | regulation of transcription |
|---|---|
| positive regulation of DNA repair | |
| transcription | |
| nucleotide-excision repair | |
| transcription-coupled nucleotide-excision repair | |
| protein polyubiquitination | |
| protein autoubiquitination | |
| proteasomal ubiquitin-dependent protein catabolic process | |
| response to DNA damage stimulus | |
| response to oxidative stress | |
| response to X-ray | |
| response to UV |
| Ariadne Ontology | DNA repair |
|---|---|
| Transcription factors |
| Group | DNA repair |
|---|---|
| Transcription factors | |
| regulation of transcription | |
| positive regulation of DNA repair | |
| transcription | |
| nucleotide-excision repair | |
| transcription-coupled nucleotide-excision repair | |
| protein polyubiquitination | |
| protein autoubiquitination | |
| proteasomal ubiquitin-dependent protein catabolic process | |
| response to DNA damage stimulus | |
| response to oxidative stress | |
| response to X-ray | |
| response to UV | |
| protein complex binding | |
| ubiquitin-protein ligase activity | |
| DNA helicase activity | |
| DNA-dependent ATPase activity | |
| protein complex | |
| soluble fraction | |
| Cul4A-RING ubiquitin ligase complex | |
| nucleoplasm | |
| nucleotide-excision repair complex | |
| nuclear matrix | |
| nucleus |
| MedScan ID | 1161 |
|---|
| Hugo ID | 3439 |
|---|
| Human chromosome position | 5q12.1 |
|---|
| LocusLink ID | 1161 |
|---|---|
| 71991 | |
| 310071 |
| Alias | CSA |
|---|---|
| CKN1 | |
| DNA excision repair protein ERCC-8 | |
| Cockayne syndrome WD-repeat protein CSA | |
| cockayne syndrome WD repeat protein CSA | |
| 2410022P04Rik | |
| 2810431L23Rik | |
| 4631412O06Rik | |
| B130065P18Rik | |
| Cockayne syndrome 1 homolog | |
| cockayne syndrome WD repeat protein CSA homolog | |
| Cockayne syndrome 1 (classical) | |
| excision repaiross-complementing rodent repair deficiency, complementation group 8 | |
| 2410022P04 | |
| 2810431L23 | |
| 4631412O06 | |
| B130065P18 | |
| CKN I | |
| Cockayne syndrome 1 (classical) gene | |
| Cockayne syndrome 1 (classical) protein | |
| Cockayne syndrome 1 gene | |
| Cockayne syndrome 1 protein | |
| cockayne syndrome group A gene | |
| cockayne syndrome group A protein | |
| Cockayne syndrome type A gene | |
| CSA_HUMAN | |
| ERCC8 | |
| excision repair cross-complementing rodent repair deficiency, complementation group 8 |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 609412 |
|---|---|
| 216400 |
| Mouse chromosome position | 13 |
|---|
| GO ID | 0003678 |
|---|---|
| 0008094 | |
| 0032403 | |
| 0004842 | |
| 0006289 | |
| 0045739 | |
| 0043161 | |
| 0051865 | |
| 0000209 | |
| 0045449 | |
| 0006974 | |
| 0009411 | |
| 0010165 | |
| 0006979 | |
| 0006283 | |
| 0031464 | |
| 0016363 | |
| 0005654 | |
| 0000109 | |
| 0005634 | |
| 0043234 | |
| 0005625 | |
| 0006350 |
| Rat chromosome position | 2q14 |
|---|
| Swiss-Prot Accession | Q13216 |
|---|---|
| Q8CFD5 | |
| Q3TZV2 | |
| Q3U152 | |
| Q8C1K2 | |
| B2RB64 | |
| Q6FHX5 | |
| Q96GB9 | |
| Q3U066 | |
| Q8VDC4 | |
| Q9CWK7 |
| PIR ID | A57090 |
|---|
| Unigene ID | Hs.435237 |
|---|---|
| Mm.212208 | |
| Rn.107979 |
| KEGG ID | hsa:1161 |
|---|---|
| mmu:71991 | |
| rno:310071 |
| Swiss-Prot ID | ERCC8_HUMAN |
|---|---|
| ERCC8_MOUSE | |
| B2RB64_HUMAN |
| Cell Localization | Nucleus |
|---|
| IPI ID | IPI00012284 |
|---|---|
| IPI00386696 | |
| IPI00311474 | |
| IPI00477416 | |
| IPI00224284 | |
| IPI00885733 | |
| IPI00885666 | |
| IPI00885250 | |
| IPI00886052 | |
| IPI00886123 | |
| IPI00360391 |
| Homologene ID | 62 |
|---|
| RGD ID | 1311570 |
|---|
| MGI ID | 1919241 |
|---|