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Excision repair cross-complementation group 6 (HGNC Symbol)
Entrez gene summary
This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formation at DNA repair sites. Mutations in this gene are associated with Cockayne syndrome type B and cerebrooculofacioskeletal syndrome 1. Naturally-occurring readthrough transcription occurs between this gene and the adjacent PGBD3 gene (GeneID:267004), and results in a fusion protein that shares sequence with the product of each individual gene. The readthrough locus is represented by GeneID:101243544. [provided by RefSeq, Mar 2013]
Q03468 [Direct mapping] DNA excision repair protein ERCC-6
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SPOCTOPUS predicted membrane proteins Predicted intracellular proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers Disease related genes Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000303 [response to superoxide] GO:0003677 [DNA binding] GO:0003682 [chromatin binding] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005730 [nucleolus] GO:0006281 [DNA repair] GO:0006283 [transcription-coupled nucleotide-excision repair] GO:0006284 [base-excision repair] GO:0006289 [nucleotide-excision repair] GO:0006290 [pyrimidine dimer repair] GO:0006362 [transcription elongation from RNA polymerase I promoter] GO:0006366 [transcription from RNA polymerase II promoter] GO:0006974 [cellular response to DNA damage stimulus] GO:0006979 [response to oxidative stress] GO:0007256 [activation of JNKK activity] GO:0007257 [activation of JUN kinase activity] GO:0008022 [protein C-terminus binding] GO:0008023 [transcription elongation factor complex] GO:0008094 [DNA-dependent ATPase activity] GO:0008630 [intrinsic apoptotic signaling pathway in response to DNA damage] GO:0009411 [response to UV] GO:0009636 [response to toxic substance] GO:0010165 [response to X-ray] GO:0010224 [response to UV-B] GO:0010332 [response to gamma radiation] GO:0030296 [protein tyrosine kinase activator activity] GO:0032403 [protein complex binding] GO:0032784 [regulation of DNA-templated transcription, elongation] GO:0032786 [positive regulation of DNA-templated transcription, elongation] GO:0035264 [multicellular organism growth] GO:0045494 [photoreceptor cell maintenance] GO:0047485 [protein N-terminus binding] GO:0061098 [positive regulation of protein tyrosine kinase activity]