ERCC8 (gene)

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ERCC8
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases ERCC8, CKN1, CSA, UVSS2, excision repair cross-complementation group 8, ERCC excision repair 8, CSA ubiquitin ligase complex subunit
External IDs MGI: 1919241 HomoloGene: 62 GeneCards: ERCC8
Gene location (Human)
Chromosome 5 (human)
Chr. Chromosome 5 (human)[1]
Chromosome 5 (human)
Genomic location for ERCC8
Genomic location for ERCC8
Band 5q12.1 Start 60,873,831 bp[1]
End 60,945,073 bp[1]
RNA expression pattern
PBB GE ERCC8 205162 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001290285
NM_000082
NM_001007233
NM_001007234

NM_028042

RefSeq (protein)

NP_000073
NP_001007234
NP_001007235
NP_001277214

NP_082318

Location (UCSC) Chr 5: 60.87 – 60.95 Mb Chr 5: 108.16 – 108.2 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

DNA excision repair protein ERCC-8 is a protein that in humans is encoded by the ERCC8 gene.[5][6]

This gene encodes a WD repeat protein, which interacts with the Cockayne syndrome type B (CSB) and p44 proteins, the latter being a subunit of the RNA polymerase II transcription factor II H. Mutations in this gene have been identified in patients with the hereditary disease Cockayne syndrome (CS). CS is an accelerated aging disorder characterized by photosensitivity, impaired development and multi-system progressive degeneration. The CS cells are abnormally sensitive to ultraviolet radiation and are defective in the repair of transcriptionally active genes. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene.[6]

CS arises from germline mutations in either of two genes CSA(ERCC8) or CSB(ERCC6). CSA mutations generally give rise to a more moderate form of CS than CSB mutations.[7] Mutations in the CSA gene account for about 20% of CS cases.[8]

Function[edit]

CSA and CSB proteins are thought to function in transcription and DNA repair, most notably in transcription-coupled nucleotide excision repair. CSA and CSB-deficient cells exhibit a lack of preferential repair of UV-induced cyclobutane pyrimidine dimers in actively transcribed genes, consistent with a failed transcription coupled nucleotide excision repair response.[9] Within the cell, the CSA protein localizes to sites of DNA damage, particularly inter-strand cross-links, double-strand breaks and some mono-adducts.[7]

Interactions[edit]

ERCC8 (gene) has been shown to interact with XAB2.[10]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000049167 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000021694 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ Itoh T, Shiomi T, Shiomi N, Harada Y, Wakasugi M, Matsunaga T, Nikaido O, Friedberg EC, Yamaizumi M (April 1996). "Rodent complementation group 8 (ERCC8) corresponds to Cockayne syndrome complementation group A". Mutat Res. 362 (2): 167–74. doi:10.1016/0921-8777(95)00046-1. PMID 8596535. 
  6. ^ a b "Entrez Gene: ERCC8 excision repair cross-complementing rodent repair deficiency, complementation group 8". 
  7. ^ a b Iyama T, Wilson DM (2016). "Elements That Regulate the DNA Damage Response of Proteins Defective in Cockayne Syndrome". J. Mol. Biol. 428 (1): 62–78. doi:10.1016/j.jmb.2015.11.020. PMC 4738086Freely accessible. PMID 26616585. 
  8. ^ Koch S, Garcia Gonzalez O, Assfalg R, Schelling A, Schäfer P, Scharffetter-Kochanek K, Iben S (2014). "Cockayne syndrome protein A is a transcription factor of RNA polymerase I and stimulates ribosomal biogenesis and growth". Cell Cycle. 13 (13): 2029–37. doi:10.4161/cc.29018. PMC 4111694Freely accessible. PMID 24781187. 
  9. ^ van Hoffen A, Natarajan AT, Mayne LV, van Zeeland AA, Mullenders LH, Venema J (1993). "Deficient repair of the transcribed strand of active genes in Cockayne's syndrome cells". Nucleic Acids Res. 21 (25): 5890–5. PMC 310470Freely accessible. PMID 8290349. 
  10. ^ Nakatsu Y, Asahina H, Citterio E, Rademakers S, Vermeulen W, Kamiuchi S, Yeo JP, Khaw MC, Saijo M, Kodo N, Matsuda T, Hoeijmakers JH, Tanaka K (November 2000). "XAB2, a novel tetratricopeptide repeat protein involved in transcription-coupled DNA repair and transcription". J. Biol. Chem. UNITED STATES. 275 (45): 34931–7. doi:10.1074/jbc.M004936200. ISSN 0021-9258. PMID 10944529. 

Further reading[edit]

External links[edit]