ERCC8 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. Defects in ERCC8 are the cause of Cockayne syndrome type A (CSA). Cockayne syndrome is 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. Defects in ERCC8 are the cause of UV-sensitive syndrome type 2 (UVSS2). An autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling in the absence of neurological abnormalities or skin tumors. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: DNA repair, damage; Helicase; Ubiquitin conjugating system
Chromosomal Location of Human Ortholog: 13|13 D2.1
Cellular Component:  Cul4-RING E3 ubiquitin ligase complex; Cul4A-RING E3 ubiquitin ligase complex; cytoplasm; nuclear matrix; nucleotide-excision repair complex; nucleus; perikaryon; protein-containing complex
Molecular Function:  protein-containing complex binding
Biological Process:  cellular response to DNA damage stimulus; DNA repair; nucleotide-excision repair; positive regulation of DNA repair; proteasome-mediated ubiquitin-dependent protein catabolic process; protein autoubiquitination; protein polyubiquitination; response to oxidative stress; response to UV; response to X-ray; transcription-coupled nucleotide-excision repair
Reference #:  Q8CFD5 (UniProtKB)
Alt. Names/Synonyms: 2410022P04Rik; 2810431L23Rik; 4631412O06Rik; B130065P18Rik; Ckn1; Cockayne syndrome 1 homolog; Cockayne syndrome WD repeat protein CSA homolog; Csa; DNA excision repair protein ERCC-8; Ercc8; excision repaiross-complementing rodent repair deficiency, complementation group 8
Gene Symbols: Ercc8
Molecular weight: 43,689 Da
Basal Isoelectric point: 6.18  Predict pI for various phosphorylation states
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ERCC8

Protein Structure Not Found.


Cross-references to other databases:  STRING  |  Reactome  |  BioGPS  |  Pfam  |  Phospho.ELM  |  GeneCards  |  UniProtKB  |  Entrez-Gene  |  GenPept  |  Ensembl Gene