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    GTF2H1 general transcription factor IIH subunit 1 [ Homo sapiens (human) ]

    Gene ID: 2965, updated on 2-Nov-2024

    Summary

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    Official Symbol
    GTF2H1provided by HGNC
    Official Full Name
    general transcription factor IIH subunit 1provided by HGNC
    Primary source
    HGNC:HGNC:4655
    See related
    Ensembl:ENSG00000110768 MIM:189972; AllianceGenome:HGNC:4655
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    P62; BTF2; TFB1; TFIIH
    Summary
    Enables nuclear thyroid hormone receptor binding activity. Involved in positive regulation of DNA-templated transcription and transcription initiation at RNA polymerase II promoter. Located in nucleoplasm. Part of transcription factor TFIIH core complex and transcription factor TFIIH holo complex. [provided by Alliance of Genome Resources, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 18.1), thyroid (RPKM 12.6) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See GTF2H1 in Genome Data Viewer
    Location:
    11p15.1
    Exon count:
    18
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (18322567..18367045)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (18418103..18462582)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (18344114..18388592)

    Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 334 Neighboring gene MPRA-validated peak1223 silencer Neighboring gene serum amyloid A1 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4493 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4494 Neighboring gene HPS5 biogenesis of lysosomal organelles complex 2 subunit 2 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4495 Neighboring gene BRD4-independent group 4 enhancer GRCh37_chr11:18343272-18344471 Neighboring gene uncharacterized LOC105376577 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4498 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:18415405-18416069 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:18416070-18416735 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 3191 Neighboring gene OCT4-NANOG hESC enhancer GRCh37_chr11:18417470-18417971 Neighboring gene microRNA 3159 Neighboring gene lactate dehydrogenase A

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    Related articles in PubMed

    1. Ku70/Ku80 protein complex inhibits the binding of nucleotide excision repair proteins on linear DNA in vitro. Frit P, et al. J Mol Biol, 1998 Dec 11. PMID 9837719
    2. Structural and dynamical insights into the PH domain of p62 in human TFIIH. Okuda M, et al. Nucleic Acids Res, 2021 Mar 18. PMID 33211877, Free PMC Article
    3. Genetic variants in GTF2H1 and risk of lung cancer: a case-control analysis in a Chinese population. Wu W, et al. Lung Cancer, 2009 Feb. PMID 18692935
    4. Rapid switching of TFIIH between RNA polymerase I and II transcription and DNA repair in vivo. Hoogstraten D, et al. Mol Cell, 2002 Nov. PMID 12453423
    5. A high-resolution integrated physical, cytogenetic, and genetic map of human chromosome 11: distal p13 to proximal p15.1. Fantes JA, et al. Genomics, 1995 Jan 20. PMID 7789978

    See all (167) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Structural characterization of transcription-coupled repair protein UVSSA and its interaction with TFIIH protein.
      Title: Structural characterization of transcription-coupled repair protein UVSSA and its interaction with TFIIH protein.
    2. Impact of GTF2H1 and RAD54L2 polymorphisms on the risk of lung cancer in the Chinese Han population.
      Title: Impact of GTF2H1 and RAD54L2 polymorphisms on the risk of lung cancer in the Chinese Han population.
    3. Three human RNA polymerases interact with TFIIH via a common RPB6 subunit.
      Title: Three human RNA polymerases interact with TFIIH via a common RPB6 subunit.
    4. Structural and dynamical insights into the PH domain of p62 in human TFIIH.
      Title: Structural and dynamical insights into the PH domain of p62 in human TFIIH.
    5. The TFIIH subunits p44/p62 act as a damage sensor during nucleotide excision repair.
      Title: The TFIIH subunits p44/p62 act as a damage sensor during nucleotide excision repair.
    6. GTF2H1 is a direct transcriptional target of MITF.
      Title: Lineage-specific control of TFIIH by MITF determines transcriptional homeostasis and DNA repair.
    7. The results unveil a tight connection between TFIIH and KAT2A that controls higher-order chromatin structure and gene expression and provide new insights into transcriptional dysregulation in a cancer-prone DNA repair-deficient disorder, Xeroderma Pigmentosum B-Cockayne Syndrome.
      Title: Functional interplay between TFIIH and KAT2A regulates higher-order chromatin structure and class II gene expression.
    8. The sensitivity of SWI/SNF-deficient cells to DNA damage induced by UV irradiation and cisplatin treatment depends on GTF2H1 levels.
      Title: DNA damage sensitivity of SWI/SNF-deficient cells depends on TFIIH subunit p62/GTF2H1.
    9. Data suggest that a common TFIIH subunit p62 recruitment mechanism is shared by UV-stimulated scaffold protein A (UVSSA) in transcription-coupled repair (TCR) and xeroderma pigmentosum, complementation group C protein (XPC) in global genome repair (GGR).
      Title: Common TFIIH recruitment mechanism in global genome and transcription-coupled repair subpathways.
    10. The N-terminal highly acidic region of TFIIEalpha interacts with the pleckstrin homology domain of TFIIH and adopts an extended stringlike structure on the positive groove of the pleckstrin homology domain with two hydrophobic amino acids, Phe387 and Val390, inserting into two shallow hydrophobic pockets of the pleckstrin homology domain.
      Title: Dynamics of the Extended String-Like Interaction of TFIIE with the p62 Subunit of TFIIH.
    Submit: New GeneRIF Correction See all GeneRIFs (20)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    EBI GWAS Catalog

    Description
    An atlas of genetic influences on human blood metabolites.
    EBI GWAS Catalog
    Genome-wide association study identifies two novel regions at 11p15.5-p13 and 1p31 with major impact on acute-phase serum amyloid A.
    EBI GWAS Catalog
    Genome-wide association study of survival in patients with pancreatic adenocarcinoma.
    EBI GWAS Catalog

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    HIV-1 interactions

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    Replication interactions

    Interaction Pubs
    Knockdown of general transcription factor IIH, polypeptide 1 (GTF2H1) by siRNA inhibits HIV-1 replication in HeLa P4/R5 cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat TFIIH synergizes with HIV-1 Tat to induce transcription elongation from the HIV-1 LTR promoter PubMed
    tat Interaction of HIV-1 Tat with TFIIH stimulates phosphorylation of Ser-5 of the RNA polymerase II C-terminal domain (CTD), which in turn also stimulates co-transcriptional capping of HIV-1 mRNA PubMed
    tat TFIIH interacts with HIV-1 Tat as a component of the HIV-1 transcription preinitiation complex, but is released from the elongation complex which includes P-TEFb PubMed
    tat CAK/TFIIH is required for HIV-1 Tat-mediated transactivation of the HIV-1 LTR promoter PubMed
    tat Amino acids 1-48 of HIV-1 Tat, which includes the Tat activation domain, mediate the binding of Tat to CAK and the TFIIH complex through a direct interaction with CDK7 and possibly other TFIIH subunits, including p62 and ERCC3 PubMed
    tat HIV-1 Tat interacts with the RNA polymerase II holoenzyme and transcription preinitiation complexes, which include TFIIH, during Tat-mediated transactivation of the HIV-1 LTR PubMed
    Vpr vpr TFIIH inhibits HIV-1 Vpr cell cycle-arresting function PubMed
    vpr TFIIH enhances the synergistic activation of glucocorticoid receptor by HIV-1 Vpr and p300 PubMed

    Go to the HIV-1, Human Interaction Database

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables chromatin binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables nuclear thyroid hormone receptor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in hormone-mediated signaling pathway NAS
    Non-traceable Author Statement
    more info
    		 PubMed 
    involved_in nucleotide-excision repair IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in positive regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of cyclin-dependent protein serine/threonine kinase activity TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in transcription by RNA polymerase I IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in transcription initiation at RNA polymerase II promoter IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    part_of transcription factor TFIIH core complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of transcription factor TFIIH core complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of transcription factor TFIIH holo complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    part_of transcription factor TFIIH holo complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    general transcription factor IIH subunit 1
    Names
    BTF2 p62
    TFIIH basal transcription factor complex p62 subunit
    basic transcription factor 2 62 kDa subunit
    epididymis secretory sperm binding protein
    general transcription factor IIH polypeptide 1
    general transcription factor IIH, polypeptide 1, 62kDa

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_001142307.2 → NP_001135779.1  general transcription factor IIH subunit 1

      See identical proteins and their annotated locations for NP_001135779.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (2) differs in the 5' UTR, compared to variant 1.
      Source sequence(s)
      AC084117, AI275181, AK027003, BC004452
      Consensus CDS
      CCDS7838.1
      UniProtKB/Swiss-Prot
      B3KXE0, D3DQY2, P32780, Q6I9Y7, Q9H5K5, Q9NQD9
      UniProtKB/TrEMBL
      A0A384MTQ8, B2R7G4
      Related
      ENSP00000393638.2, ENST00000453096.6
      Conserved Domains (2) summary
      smart00751
      Location:182 → 232
      BSD; domain in transcription factors and synapse-associated proteins
      cd13229
      Location:9 → 102
      PH_TFIIH; Transcription Factor II H (TFIIH) Pleckstrin homology (PH) domain

    2. NM_005316.4 → NP_005307.1  general transcription factor IIH subunit 1

      See identical proteins and their annotated locations for NP_005307.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (1) represents the shorter transcript.
      Source sequence(s)
      AC084117, AI275181, BC004452, M95809
      Consensus CDS
      CCDS7838.1
      UniProtKB/Swiss-Prot
      B3KXE0, D3DQY2, P32780, Q6I9Y7, Q9H5K5, Q9NQD9
      UniProtKB/TrEMBL
      A0A384MTQ8, B2R7G4
      Related
      ENSP00000265963.4, ENST00000265963.9
      Conserved Domains (2) summary
      smart00751
      Location:182 → 232
      BSD; domain in transcription factors and synapse-associated proteins
      cd13229
      Location:9 → 102
      PH_TFIIH; Transcription Factor II H (TFIIH) Pleckstrin homology (PH) domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

      Range
      18322567..18367045
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_024448457.2 → XP_024304225.1  general transcription factor IIH subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KXE0, D3DQY2, P32780, Q6I9Y7, Q9H5K5, Q9NQD9
      UniProtKB/TrEMBL
      A0A384MTQ8, B2R7G4
      Conserved Domains (2) summary
      smart00751
      Location:182 → 232
      BSD; domain in transcription factors and synapse-associated proteins
      cd13229
      Location:9 → 102
      PH_TFIIH; Transcription Factor II H (TFIIH) Pleckstrin homology (PH) domain

    2. XM_006718208.4 → XP_006718271.1  general transcription factor IIH subunit 1 isoform X1

      See identical proteins and their annotated locations for XP_006718271.1

      UniProtKB/Swiss-Prot
      B3KXE0, D3DQY2, P32780, Q6I9Y7, Q9H5K5, Q9NQD9
      UniProtKB/TrEMBL
      A0A384MTQ8, B2R7G4
      Conserved Domains (2) summary
      smart00751
      Location:182 → 232
      BSD; domain in transcription factors and synapse-associated proteins
      cd13229
      Location:9 → 102
      PH_TFIIH; Transcription Factor II H (TFIIH) Pleckstrin homology (PH) domain

    3. XM_024448458.2 → XP_024304226.1  general transcription factor IIH subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KXE0, D3DQY2, P32780, Q6I9Y7, Q9H5K5, Q9NQD9
      UniProtKB/TrEMBL
      A0A384MTQ8, B2R7G4
      Conserved Domains (2) summary
      smart00751
      Location:182 → 232
      BSD; domain in transcription factors and synapse-associated proteins
      cd13229
      Location:9 → 102
      PH_TFIIH; Transcription Factor II H (TFIIH) Pleckstrin homology (PH) domain

    Reference GRCh38.p14 PATCHES

    Genomic

    1. NW_021160006.1 Reference GRCh38.p14 PATCHES

      Range
      71393..115871
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054332525.1 → XP_054188500.1  general transcription factor IIH subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KXE0, D3DQY2, P32780, Q6I9Y7, Q9H5K5, Q9NQD9
      UniProtKB/TrEMBL
      A0A384MTQ8

    2. XM_054332524.1 → XP_054188499.1  general transcription factor IIH subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KXE0, D3DQY2, P32780, Q6I9Y7, Q9H5K5, Q9NQD9
      UniProtKB/TrEMBL
      A0A384MTQ8

    3. XM_054332526.1 → XP_054188501.1  general transcription factor IIH subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KXE0, D3DQY2, P32780, Q6I9Y7, Q9H5K5, Q9NQD9
      UniProtKB/TrEMBL
      A0A384MTQ8

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060935.1 Alternate T2T-CHM13v2.0

      Range
      18418103..18462582
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054368587.1 → XP_054224562.1  general transcription factor IIH subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KXE0, D3DQY2, P32780, Q6I9Y7, Q9H5K5, Q9NQD9
      UniProtKB/TrEMBL
      A0A384MTQ8

    2. XM_054368586.1 → XP_054224561.1  general transcription factor IIH subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KXE0, D3DQY2, P32780, Q6I9Y7, Q9H5K5, Q9NQD9
      UniProtKB/TrEMBL
      A0A384MTQ8

    3. XM_054368588.1 → XP_054224563.1  general transcription factor IIH subunit 1 isoform X1

      UniProtKB/Swiss-Prot
      B3KXE0, D3DQY2, P32780, Q6I9Y7, Q9H5K5, Q9NQD9
      UniProtKB/TrEMBL
      A0A384MTQ8
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P32780.1 GenPept UniProtKB/Swiss-Prot:P32780

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