ERCC5

ERCC5
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
Aliases ERCC5, COFS3, ERCM2, UVDR, XPG, XPGC, ERCC5-201, excision repair cross-complementation group 5, ERCC excision repair 5, endonuclease
External IDs MGI: 103582 HomoloGene: 133551 GeneCards: ERCC5
RNA expression pattern
More reference expression data
Orthologs
Species Human Mouse
Entrez

2073

22592

Ensembl

ENSG00000134899

ENSMUSG00000026048

UniProt

P28715

P35689

RefSeq (mRNA)

NM_000123

NM_011729

RefSeq (protein)

NP_000114.2

n/a

Location (UCSC) Chr 13: 102.84 – 102.88 Mb Chr 1: 44.15 – 44.18 Mb
PubMed search [1] [2]
Wikidata
View/Edit HumanView/Edit Mouse

DNA repair protein complementing XP-G cells is a protein that in humans is encoded by the ERCC5 gene.[3][4]

Excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G) is involved in excision repair of UV-induced DNA damage. Mutations cause Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. Multiple alternatively spliced transcript variants encoding distinct isoforms have been described, but the biological validity of all variants has not been determined.[4]

Mutations in ERCC5 cause arthrogryposis .[5]

Interactions

ERCC5 has been shown to interact with ERCC2.[6]

References

  1. "Human PubMed Reference:".
  2. "Mouse PubMed Reference:".
  3. Samec S, Jones TA, Corlet J, Scherly D, Sheer D, Wood RD, Clarkson SG (Oct 1994). "The human gene for xeroderma pigmentosum complementation group G (XPG) maps to 13q33 by fluorescence in situ hybridization". Genomics. 21 (1): 283–5. doi:10.1006/geno.1994.1261. PMID 8088806.
  4. 1 2 "Entrez Gene: ERCC5 excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))".
  5. Drury, S; Boustred, C; Tekman, M; Stanescu, H; Kleta, R; Lench, N; Chitty, L. S.; Scott, R. H. (2014). "A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis-Further evidence of genotype-phenotype correlation". American Journal of Medical Genetics Part A. 164 (7): 1777–83. doi:10.1002/ajmg.a.36506. PMID 24700531.
  6. Iyer, N; Reagan M S; Wu K J; Canagarajah B; Friedberg E C (Feb 1996). "Interactions involving the human RNA polymerase II transcription/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG, and Cockayne syndrome group B (CSB) protein". Biochemistry. UNITED STATES. 35 (7): 2157–67. doi:10.1021/bi9524124. ISSN 0006-2960. PMID 8652557.

External links

Further reading


This article is issued from Wikipedia - version of the 6/6/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.