GENE NAME | ERCC5 |
CHROMOSOME | 13 |
ENSEMBL ID | ENSG00000134899 |
ENTREZ ID | 2073 |
UNIPROT ACCESSION NUMBER | P28715 |
GO MOLECULAR FUNCTION | protein homodimerization activity; single-stranded DNA binding; double-stranded DNA binding; damaged DNA binding; protein binding; bubble DNA binding; endodeoxyribonuclease activity; protein N-terminus binding; metal ion binding; RNA polymerase II complex binding; endonuclease activity; protein-containing complex binding; enzyme activator activity |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | R-HSA-6782135; hsa03420; R-HSA-5696399; R-HSA-5696400; R-HSA-6781827; R-HSA-5696398; R-HSA-5696395; R-HSA-73894 |
1 combination linked to ERCC5 | OLI924 |
1 variant linked to ERCC5 | ERCC5:c.2383G>A, p.Ala795Thr |
1 disease linked to ERCC5 | Transposition of the great arteries |