Homo sapiens L. (human) [HSA]

FULL NAME: DNA excision repair protein ERCC-8


DESCRIPTION:
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 recruitement 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.

STRUCTURE SIMILARITY:
Contains 5 WD repeats.


RELATED PATHWAY(S):
nucleotide excision repair (NER)


RELATED DISEASE(S):
Cockayne syndrome, TYPE A


Amino acids sequence

        10         20         30         40         50         60
MLGFLSARQT GLEDPLRLRR AESTRRVLGL ELNKDRDVER IHGGGINTLD IEPVEGRYML
        70         80         90        100        110        120
SGGSDGVIVL YDLENSSRQS YYTCKAVCSI GRDHPDVHRY SVETVQWYPH DTGMFTSSSF
       130        140        150        160        170        180
DKTLKVWDTN TLQTADVFNF EETVYSHHMS PVSTKHCLVA VGTRGPKVQL CDLKSGSCSH
       190        200        210        220        230        240
ILQGHRQEIL AVSWSPRYDY ILATASADSR VKLWDVRRAS GCLITLDQHN GKKSQAVESA
       250        260        270        280        290        300
NTAHNGKVNG LCFTSDGLHL LTVGTDNRMR LWNSSNGENT LVNYGKVCNN SKKGLKFTVS
       310        320        330        340        350        360
CGCSSEFVFV PYGSTIAVYT VYSGEQITML KGHYKTVDCC VFQSNFQELY SGSRDCNILA
       370        380        390
WVPSLYEPVP DDDETTTKSQ LNPAFEDAWS SSDEEG  

Encoded by ERCC8 gene

FULL NAME: excision repair cross-complementing rodent repair deficiency, complementation group 8


OTHER NAME(S):
CKN1
CSA


DESCRIPTION:
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, Jul 2008]


Nucleic acid sequence

        10         20         30         40         50         60
atgctggggt ttttgtccgc acgccaaacg ggtttggagg accctcttcg ccttcggaga
        70         80         90        100        110        120
gcagagtcaa cacggagagt tttgggactg gaattaaata aagacagaga tgttgaaaga
       130        140        150        160        170        180
atccacggcg gtggaattaa cacccttgac attgaacctg ttgaagggag atacatgtta
       190        200        210        220        230        240
tcaggtggtt cagatggtgt gattgtactt tatgaccttg agaactccag cagacaatct
       250        260        270        280        290        300
tattacacat gtaaagcagt gtgttccatt ggcagagatc atcctgatgt tcacagatac
       310        320        330        340        350        360
agtgtggaga ctgtacagtg gtatcctcat gacactggca tgttcacatc aagctcattt
       370        380        390        400        410        420
gataaaactc tgaaagtatg ggatacaaat acattacaaa ctgcagatgt atttaatttt
       430        440        450        460        470        480
gaggaaacag tttatagtca tcatatgtct ccagtctcca ccaagcactg tttggtagca
       490        500        510        520        530        540
gttggtacta gaggacccaa agtacaactt tgtgacttga agtctggatc ctgttctcac
       550        560        570        580        590        600
attctacagg gtcacagaca agaaatatta gcagtttcct ggtctccacg ttatgactat
       610        620        630        640        650        660
atcttggcaa cagcaagtgc tgacagtaga gtaaaattat gggatgtgag aagagcatca
       670        680        690        700        710        720
ggatgtttga ttactcttga tcaacataat gggaaaaagt cacaagctgt tgaatcagca
       730        740        750        760        770        780
aacactgctc ataatgggaa agttaatggc ttatgtttta caagtgatgg acttcacctc
       790        800        810        820        830        840
ctcactgttg gtacagataa tcgaatgagg ctctggaata gttccaatgg agaaaacaca
       850        860        870        880        890        900
cttgtgaact atggaaaagt ttgtaataac agtaaaaaag gattgaaatt cactgtctcc
       910        920        930        940        950        960
tgtggctgca gttcagaatt tgtttttgta ccatatggta gcaccattgc tgtttataca
       970        980        990       1000       1010       1020
gtttactcag gagaacagat aactatgctt aagggacatt ataaaactgt tgactgctgt
      1030       1040       1050       1060       1070       1080
gtatttcagt caaatttcca ggaactttat agtggtagca gagactgcaa cattctggct
      1090       1100       1110       1120       1130       1140
tgggttccat ccttatatga accagttcct gatgatgatg agactacaac aaaatcacaa
      1150       1160       1170       1180       1190
ttaaatccgg cctttgaaga tgcctggagc agcagtgatg aagaaggatg a

Last modification date: Oct. 2, 2011