ERCC5

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Excision repair cross-complementation group 5
Identifiers
Symbols ERCC5 ; COFS3; ERCM2; UVDR; XPG; XPGC
External IDs OMIM133530 MGI103582 HomoloGene133551 ChEMBL: 4736 GeneCards: ERCC5 Gene
RNA expression pattern
PBB GE ERCC5 202414 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 2073 22592
Ensembl ENSG00000134899 ENSMUSG00000026048
UniProt P28715 E9QM61
RefSeq (mRNA) NM_000123 NM_011729
RefSeq (protein) NP_000114 NP_035859
Location (UCSC) Chr 13:
103.5 – 103.53 Mb
Chr 1:
44.15 – 44.18 Mb
PubMed search [1] [2]

DNA repair protein complementing XP-G cells is a protein that in humans is encoded by the ERCC5 gene.[1][2]

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.[2]

Mutations in ERCC5 cause arthrogryposis .[3]

Interactions[edit]

ERCC5 has been shown to interact with ERCC2.[4]

References[edit]

  1. ^ 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. 
  2. ^ a b "Entrez Gene: ERCC5 excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))". 
  3. ^ 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.  edit
  4. ^ 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[edit]

Further reading[edit]