{
    "title": "Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7.",
    "journal": "Molecular cell",
    "date": "1999",
    "authors": "Tirode F, Busso D, Coin F, Egly JM",
    "reference": {
        "type": "PubMed",
        "id": "10024882",
        "url": "https://pubmed.ncbi.nlm.nih.gov/10024882"
    },
    "referenced_glycans": [],
    "referenced_proteins": [
        {
            "uniprot_canonical_ac": "O00268-1",
            "protein_name": "Transcription initiation factor TFIID subunit 4",
            "gene_name": "TAF4",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q5H9L4-1",
            "protein_name": "Transcription initiation factor TFIID subunit 7-like",
            "gene_name": "TAF7L",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q15545-1",
            "protein_name": "Transcription initiation factor TFIID subunit 7",
            "gene_name": "TAF7",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q5VWG9-1",
            "protein_name": "Transcription initiation factor TFIID subunit 3",
            "gene_name": "TAF3",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q15543-1",
            "protein_name": "Transcription initiation factor TFIID subunit 13",
            "gene_name": "TAF13",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P49848-1",
            "protein_name": "Transcription initiation factor TFIID subunit 6",
            "gene_name": "TAF6",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P51946-1",
            "protein_name": "Cyclin-H",
            "gene_name": "CCNH",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q8IZX4-1",
            "protein_name": "Transcription initiation factor TFIID subunit 1-like",
            "gene_name": "TAF1L",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P52434-1",
            "protein_name": "DNA-directed RNA polymerases I, II, and III subunit RPABC3",
            "gene_name": "POLR2H",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P20226-1",
            "protein_name": "TATA-box-binding protein",
            "gene_name": "TBP",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P30876-1",
            "protein_name": "DNA-directed RNA polymerase II subunit RPB2",
            "gene_name": "POLR2B",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P29084-1",
            "protein_name": "Transcription initiation factor IIE subunit beta",
            "gene_name": "GTF2E2",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q6ZYL4-1",
            "protein_name": "General transcription factor IIH subunit 5",
            "gene_name": "GTF2H5",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q13889-1",
            "protein_name": "General transcription factor IIH subunit 3",
            "gene_name": "GTF2H3",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P18074-1",
            "protein_name": "General transcription and DNA repair factor IIH helicase subunit XPD",
            "gene_name": "ERCC2",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P24928-1",
            "protein_name": "DNA-directed RNA polymerase II subunit RPB1",
            "gene_name": "POLR2A",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "O15514-1",
            "protein_name": "DNA-directed RNA polymerase II subunit RPB4",
            "gene_name": "POLR2D",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q12962-1",
            "protein_name": "Transcription initiation factor TFIID subunit 10",
            "gene_name": "TAF10",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q15542-1",
            "protein_name": "Transcription initiation factor TFIID subunit 5",
            "gene_name": "TAF5",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P53803-1",
            "protein_name": "DNA-directed RNA polymerases I, II, and III subunit RPABC4",
            "gene_name": "POLR2K",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P62487-1",
            "protein_name": "DNA-directed RNA polymerase II subunit RPB7",
            "gene_name": "POLR2G",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q16594-1",
            "protein_name": "Transcription initiation factor TFIID subunit 9",
            "gene_name": "TAF9",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P21675-2",
            "protein_name": "Transcription initiation factor TFIID subunit 1",
            "gene_name": "TAF1",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P35269-1",
            "protein_name": "General transcription factor IIF subunit 1",
            "gene_name": "GTF2F1",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q16514-1",
            "protein_name": "Transcription initiation factor TFIID subunit 12",
            "gene_name": "TAF12",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q13888-1",
            "protein_name": "General transcription factor IIH subunit 2",
            "gene_name": "GTF2H2C_2; GTF2H2C; GTF2H2",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P32780-1",
            "protein_name": "General transcription factor IIH subunit 1",
            "gene_name": "GTF2H1",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P50613-1",
            "protein_name": "Cyclin-dependent kinase 7",
            "gene_name": "CDK7",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q6P1X5-1",
            "protein_name": "Transcription initiation factor TFIID subunit 2",
            "gene_name": "TAF2",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P51948-1",
            "protein_name": "CDK-activating kinase assembly factor MAT1",
            "gene_name": "MNAT1",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q92759-1",
            "protein_name": "General transcription factor IIH subunit 4",
            "gene_name": "GTF2H4",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P52435-1",
            "protein_name": "DNA-directed RNA polymerase II subunit RPB11-a",
            "gene_name": "POLR2J",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P61218-1",
            "protein_name": "DNA-directed RNA polymerases I, II, and III subunit RPABC2",
            "gene_name": "POLR2F",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q9HBM6-1",
            "protein_name": "Transcription initiation factor TFIID subunit 9B",
            "gene_name": "TAF9B",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q92804-1",
            "protein_name": "TATA-binding protein-associated factor 2N",
            "gene_name": "TAF15",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q00403-1",
            "protein_name": "Transcription initiation factor IIB",
            "gene_name": "GTF2B",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P29083-1",
            "protein_name": "General transcription factor IIE subunit 1",
            "gene_name": "GTF2E1",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P19387-1",
            "protein_name": "DNA-directed RNA polymerase II subunit RPB3",
            "gene_name": "POLR2C",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P52655-1",
            "protein_name": "Transcription initiation factor IIA subunit 1",
            "gene_name": "GTF2A1",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q15544-1",
            "protein_name": "Transcription initiation factor TFIID subunit 11",
            "gene_name": "TAF11",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P62875-1",
            "protein_name": "DNA-directed RNA polymerases I, II, and III subunit RPABC5",
            "gene_name": "POLR2L",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "Q92750-1",
            "protein_name": "Transcription initiation factor TFIID subunit 4B",
            "gene_name": "TAF4B",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P52657-1",
            "protein_name": "Transcription initiation factor IIA subunit 2",
            "gene_name": "GTF2A2",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P19447-1",
            "protein_name": "General transcription and DNA repair factor IIH helicase/translocase subunit XPB",
            "gene_name": "ERCC3",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P19388-1",
            "protein_name": "DNA-directed RNA polymerases I, II, and III subunit RPABC1",
            "gene_name": "POLR2E",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P13984-1",
            "protein_name": "General transcription factor IIF subunit 2",
            "gene_name": "GTF2F2",
            "tax_name": "Human"
        },
        {
            "uniprot_canonical_ac": "P36954-1",
            "protein_name": "DNA-directed RNA polymerase II subunit RPB9",
            "gene_name": "POLR2I",
            "tax_name": "Human"
        }
    ],
    "species": [
        {
            "name": "Homo sapiens",
            "taxid": 9606,
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "O00268",
                    "url": "https://www.uniprot.org/uniprot/O00268"
                }
            ],
            "common_name": "Human",
            "glygen_name": "Human",
            "reference_species": "Homo sapiens [9606]"
        }
    ],
    "mutagenesis": [
        {
            "start_pos": 48,
            "end_pos": 48,
            "sequence_org": "K",
            "sequence_mut": "R",
            "comment": "Decreased transcriptional activity of the reconstituted TFIIH complex. Damaged DNA opening by TFIIH is impeded. Loss of TFIIH 5'-3' helicase activity, still binds GTF2H2. Does not restore nucleotide excision repair (NER) in deficient cells, does not bind UV damaged DNA.",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "P18074",
                    "url": "https://www.uniprot.org/uniprot/P18074"
                },
                {
                    "database": "PubMed",
                    "id": "9771713",
                    "url": "https://pubmed.ncbi.nlm.nih.gov/9771713"
                },
                {
                    "database": "PubMed",
                    "id": "10024882",
                    "url": "https://pubmed.ncbi.nlm.nih.gov/10024882"
                },
                {
                    "database": "PubMed",
                    "id": "31253769",
                    "url": "https://pubmed.ncbi.nlm.nih.gov/31253769"
                },
                {
                    "database": "PubMed",
                    "id": "23352696",
                    "url": "https://pubmed.ncbi.nlm.nih.gov/23352696"
                },
                {
                    "database": "PubMed",
                    "id": "17466626",
                    "url": "https://pubmed.ncbi.nlm.nih.gov/17466626"
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            ],
            "uniprot_canonical_ac": "P18074-1"
        },
        {
            "start_pos": 346,
            "end_pos": 346,
            "sequence_org": "K",
            "sequence_mut": "R",
            "comment": "Dominant-negative effect on transcription and NER, induces chromatin collapse, probably has no ATPase activity. No transcriptional activity of the reconstituted TFIIH complex. TFHHI is inactive in DNA repair and in transcription.",
            "evidence": [
                {
                    "database": "UniProtKB",
                    "id": "P19447",
                    "url": "https://www.uniprot.org/uniprot/P19447"
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                    "database": "PubMed",
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                {
                    "database": "PubMed",
                    "id": "8157004",
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                },
                {
                    "database": "PubMed",
                    "id": "17466626",
                    "url": "https://pubmed.ncbi.nlm.nih.gov/17466626"
                }
            ],
            "uniprot_canonical_ac": "P19447-1"
        }
    ],
    "record_id": "pubmed.10024882",
    "abstract": "",
    "glycosylation": [],
    "snv": [],
    "phosphorylation": [],
    "glycation": [],
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