ERCC2
ATP-dependent 5'-3' DNA helicase, component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. The ATP-dependent helicase activity of XPD/ERCC2 is required for DNA opening. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription. XPD/ERCC2 acts by forming a bridge between CAK and the core-TFIIH complex. Involved in the regulation of vitamin-D receptor activity. As part of the mitotic spindle-associated MMXD complex it plays a role in chromosome segregation. Might have a role in aging process and could play a causative role in the generation of skin cancers. Belongs to the helicase family. RAD3/XPD subfamily. 2 alternatively spliced human isoforms have been reported. Note: This description may include information from UniProtKB.
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Protein type: EC 3.6.4.12; Helicase |
Chromosomal Location of human Ortholog: 19q13.32 |
Cellular Component:
CAK-ERCC2 complex; cytoplasm; cytosol; MMXD complex; nucleoplasm; nucleus; spindle; transcription factor TFIID complex; transcription factor TFIIH core complex; transcription factor TFIIH holo complex
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Molecular Function:
4 iron, 4 sulfur cluster binding; 5'-3' DNA helicase activity; ATP binding; ATP hydrolysis activity; damaged DNA binding; DNA helicase activity; metal ion binding; protein binding; protein-macromolecule adaptor activity
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Biological Process:
apoptotic process; bone mineralization; central nervous system myelin formation; chromosome segregation; determination of adult lifespan; DNA duplex unwinding; embryonic cleavage; embryonic organ development; erythrocyte maturation; extracellular matrix organization; hair cell differentiation; hair follicle maturation; hematopoietic stem cell differentiation; hematopoietic stem cell proliferation; in utero embryonic development; insulin-like growth factor receptor signaling pathway; intrinsic apoptotic signaling pathway by p53 class mediator; maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA); multicellular organism growth; nucleotide-excision repair; positive regulation of DNA binding; positive regulation of mitotic recombination; post-embryonic development; regulation of mitotic cell cycle phase transition; response to hypoxia; response to oxidative stress; spinal cord development; transcription by RNA polymerase II; transcription elongation by RNA polymerase I; transcription-coupled nucleotide-excision repair; UV protection
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Disease: Cerebrooculofacioskeletal Syndrome 2; Trichothiodystrophy, Photosensitive; Xeroderma Pigmentosum, Complementation Group D
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Reference #:
P18074
(UniProtKB)
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Alt. Names/Synonyms: Basic transcription factor 2 80 kDa subunit; BTF2 p80; COFS2; CXPD; DNA excision repair protein ERCC-2; DNA repair protein complementing XP-D cells; EM9; ERCC excision repair 2, TFIIH core complex helicase subunit; ERCC2; excision repair cross-complementation group 2; excision repair cross-complementing rodent repair deficiency, complementation group 2; General transcription and DNA repair factor IIH helicase subunit XPD; MGC102762; MGC126218; MGC126219; TFIIH; TFIIH 80 kDa subunit; TFIIH basal transcription factor complex 80 kDa subunit; TFIIH basal transcription factor complex helicase subunit; TFIIH basal transcription factor complex helicase XPB subunit; TFIIH basal transcription factor complex helicase XPD subunit; TFIIH p80; TFIIH subunit XPD; TTD; TTD1; xeroderma pigmentosum complementary group D; Xeroderma pigmentosum group D-complementing protein; XPD; XPDC
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Gene Symbols: ERCC2
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Molecular weight:
86,909 Da
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Basal Isoelectric point:
6.72
Predict pI for various phosphorylation states
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CST Pathways:
Protein Acetylation
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Protein-Specific Antibodies, siRNAs or Recombinant Proteins from Cell Signaling Technology®
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