ERCC8
entrez
1161
canonical
uniprot
Q13216
canonical
ensembl
ENSG00000049167
resolver
ensp
ENSP00000501614
resolver
ensp
ENSP00000502082
resolver
ensp
ENSP00000502154
resolver
enst
ENST00000675042
resolver
genesymbol
ERCC8
resolver
genesymbol_syn
CKN1
resolver
genesymbol_syn
CSA
resolver
hgnc
HGNC:3439
resolver
uniprot
A0A0S2Z3L1
resolver
uniprot
A0A6Q8PG21
resolver
uniprot
B2RB64
resolver
uniprot
B3KPW7
resolver
uniprot
B4DGZ9
resolver
uniprot
Q6FHX5
resolver
uniprot
Q96GB9
resolver
uniprot_entry
A0A0S2Z3L1_HUMAN
resolver
uniprot_entry
A0A6Q8PG21_HUMAN
resolver
uniprot_entry
B3KPW7_HUMAN
resolver
uniprot_entry
B4DGZ9_HUMAN
resolver
uniprot_entry
ERCC8_HUMAN
resolver
uniprot_sec
B2RB64
resolver
uniprot_sec
Q6FHX5
resolver
uniprot_sec
Q96GB9
resolver
amino_acid_sequence
MLGFLSARQTGLEDPLRLRRAESTRRVLGLELNKDRDVERIHGGGINTLDIEPVEGRYMLSGGSDGVIVLYDLENSSRQSYYTCKAVCSIGRDHPDVHRYSVETVQWYPHDTGMFTSSSFDKTLKVWDTNTLQTADVFNFEETVYSHHMSPVSTKHCLVAVGTRGPKVQLCDLKSGSCSHILQGHRQEILAVSWSPRYDYILATASADSRVKLWDVRRASGCLITLDQHNGKKSQAVESANTAHNGKVNGLCFTSDGLHLLTVGTDNRMRLWNSSNGENTLVNYGKVCNNSKKGLKFTVSCGCSSEFVFVPYGSTIAVYTVYSGEQITMLKGHYKTVDCCVFQSNFQELYSGSRDCNILAWVPSLYEPVPDDDETTTKSQLNPAFEDAWSSSDEEG
uniprot
proteins
disease_involvement
DISEASE: 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 intellectual disability. 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, ECO:0000269|PubMed:21108394}. Note=The disease is caused by variants affecting the gene represented in this entry.; DISEASE: 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 variants affecting the gene represented in this entry.
uniprot
proteins
function
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 (TC-NER), a process during which RNA polymerase II-blocking lesions are rapidly removed from the transcribed strand of active genes (PubMed:12732143, PubMed:16751180, PubMed:16964240, PubMed:32142649, PubMed:34526721, PubMed:38316879, PubMed:38600235, PubMed:38600236). Following recruitment to lesion-stalled RNA polymerase II (Pol II), the CSA complex mediates ubiquitination of Pol II subunit POLR2A/RPB1 at 'Lys-1268', a critical TC-NER checkpoint, governing RNA Pol II stability and initiating DNA damage excision by TFIIH recruitment (PubMed:12732143, PubMed:16751180, PubMed:16964240, PubMed:32142649, PubMed:32355176, PubMed:34526721, PubMed:38316879, PubMed:38600235, PubMed:38600236). The CSA complex also promotes the ubiquitination and subsequent proteasomal degradation of ERCC6/CSB in a UV-dependent manner; ERCC6 degradation is essential for the recovery of RNA synthesis after transcription-coupled repair (PubMed:16751180). Also plays a role in DNA double-strand breaks (DSSBs) repair by non-homologous end joining (NHEJ) (PubMed:29545921). {ECO:0000269|PubMed:12732143, ECO:0000269|PubMed:16751180, ECO:0000269|PubMed:16964240, ECO:0000269|PubMed:29545921, ECO:0000269|PubMed:32142649, ECO:0000269|PubMed:32355176, ECO:0000269|PubMed:34526721, ECO:0000269|PubMed:38316879, ECO:0000269|PubMed:38600235, ECO:0000269|PubMed:38600236}.
uniprot
proteins
mass_dalton
44055
uniprot
proteins
mutagenesis
MUTAGEN 334; /note="Y->A: Defects in transcription-coupled nucleotide excision repair (TC-NER)."; /evidence="ECO:0000269|PubMed:38316879
uniprot
proteins
pathway_participation
PATHWAY: Protein modification; protein ubiquitination. {ECO:0000269|PubMed:12732143, ECO:0000269|PubMed:16751180, ECO:0000269|PubMed:34526721}.
uniprot
proteins
pubmed
12732143
uniprot
proteins
pubmed
14661080
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
15744458
uniprot
proteins
pubmed
16751180
uniprot
proteins
pubmed
16916636
uniprot
proteins
pubmed
16964240
uniprot
proteins
pubmed
19329487
uniprot
proteins
pubmed
19894250
uniprot
proteins
pubmed
21108394
uniprot
proteins
pubmed
21406692
uniprot
proteins
pubmed
22118460
uniprot
proteins
pubmed
22466612
uniprot
proteins
pubmed
26620705
uniprot
proteins
pubmed
29545921
uniprot
proteins
pubmed
32142649
uniprot
proteins
pubmed
32355176
uniprot
proteins
pubmed
34526721
uniprot
proteins
pubmed
34919821
uniprot
proteins
pubmed
38316879
uniprot
proteins
pubmed
38600235
uniprot
proteins
pubmed
38600236
uniprot
proteins
pubmed
7664335
uniprot
proteins
sequence_length
396
uniprot
proteins
subcellular_location
SUBCELLULAR LOCATION: Nucleus {ECO:0000269|PubMed:26620705, ECO:0000269|PubMed:32355176}. Chromosome {ECO:0000269|PubMed:32355176}. Nucleus matrix {ECO:0000269|PubMed:26620705}. Note=Recruited to lesion-stalled RNA polymerase II (Pol II) sites by ERCC6/CSB (PubMed:32355176). UV-induced translocation to the nuclear matrix is dependent on ERCC6/CSB (PubMed:26620705). {ECO:0000269|PubMed:26620705, ECO:0000269|PubMed:32355176}.
uniprot
proteins