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Excision repair cross-complementation group 3 (HGNC Symbol)
Entrez gene summary
This gene encodes an ATP-dependent DNA helicase that functions in nucleotide excision repair. The encoded protein is a subunit of basal transcription factor 2 (TFIIH) and, therefore, also functions in class II transcription. Mutations in this gene are associated with Xeroderma pigmentosum B, Cockayne's syndrome, and trichothiodystrophy. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]
Enzymes ENZYME proteins Hydrolases Predicted intracellular proteins Plasma proteins Cancer-related genes Candidate cancer biomarkers COSMIC somatic mutations in cancer genes COSMIC Splicing Mutations COSMIC Missense Mutations COSMIC Germline Mutations Disease related genes Potential drug targets Protein evidence (Kim et al 2014) Protein evidence (Ezkurdia et al 2014)
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GO:0000439 [core TFIIH complex] GO:0000717 [nucleotide-excision repair, DNA duplex unwinding] GO:0001666 [response to hypoxia] GO:0003677 [DNA binding] GO:0003684 [damaged DNA binding] GO:0004003 [ATP-dependent DNA helicase activity] GO:0004672 [protein kinase activity] GO:0005515 [protein binding] GO:0005524 [ATP binding] GO:0005525 [GTP binding] GO:0005634 [nucleus] GO:0005654 [nucleoplasm] GO:0005675 [holo TFIIH complex] GO:0006265 [DNA topological change] GO:0006281 [DNA repair] GO:0006283 [transcription-coupled nucleotide-excision repair] GO:0006289 [nucleotide-excision repair] GO:0006360 [transcription from RNA polymerase I promoter] GO:0006361 [transcription initiation from RNA polymerase I promoter] GO:0006362 [transcription elongation from RNA polymerase I promoter] GO:0006363 [termination of RNA polymerase I transcription] GO:0006366 [transcription from RNA polymerase II promoter] GO:0006367 [transcription initiation from RNA polymerase II promoter] GO:0006368 [transcription elongation from RNA polymerase II promoter] GO:0006370 [7-methylguanosine mRNA capping] GO:0006468 [protein phosphorylation] GO:0006915 [apoptotic process] GO:0006979 [response to oxidative stress] GO:0008022 [protein C-terminus binding] GO:0008094 [DNA-dependent ATPase activity] GO:0008104 [protein localization] GO:0008134 [transcription factor binding] GO:0008353 [RNA polymerase II carboxy-terminal domain kinase activity] GO:0009411 [response to UV] GO:0009650 [UV protection] GO:0010467 [gene expression] GO:0016032 [viral process] GO:0016787 [hydrolase activity] GO:0016887 [ATPase activity] GO:0032564 [dATP binding] GO:0033683 [nucleotide-excision repair, DNA incision] GO:0035315 [hair cell differentiation] GO:0040029 [regulation of gene expression, epigenetic] GO:0042277 [peptide binding] GO:0043065 [positive regulation of apoptotic process] GO:0043138 [3'-5' DNA helicase activity] GO:0045814 [negative regulation of gene expression, epigenetic] GO:0045944 [positive regulation of transcription from RNA polymerase II promoter] GO:0047485 [protein N-terminus binding] GO:0048568 [embryonic organ development] GO:0050434 [positive regulation of viral transcription] GO:0070911 [global genome nucleotide-excision repair] GO:1901990 [regulation of mitotic cell cycle phase transition]