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    GTF2H3 general transcription factor IIH subunit 3 [ Homo sapiens (human) ]

    Gene ID: 2967, updated on 27-Nov-2024

    Summary

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    Official Symbol
    GTF2H3provided by HGNC
    Official Full Name
    general transcription factor IIH subunit 3provided by HGNC
    Primary source
    HGNC:HGNC:4657
    See related
    Ensembl:ENSG00000111358 MIM:601750; AllianceGenome:HGNC:4657
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    P34; BTF2; TFB4; TFIIH
    Summary
    This gene encodes a member of the TFB4 family. The encoded protein is a subunit of the core-TFIIH basal transcription factor and localizes to the nucleus. The encoded protein is involved in RNA transcription by RNA polymerase II and nucleotide excision repair and associates with the Cdk-activating kinase complex. Alternative splicing results in multiple transcript variants. A related pseudogene has been identified on chromosome 14. [provided by RefSeq, Dec 2012]
    Expression
    Ubiquitous expression in lymph node (RPKM 6.3), brain (RPKM 6.2) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See GTF2H3 in Genome Data Viewer
    Location:
    12q24.31
    Exon count:
    13
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (123633829..123662604)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (123632693..123661470)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (124118376..124147151)

    Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105370041 Neighboring gene DEAD-box helicase 55 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124105924-124107123 Neighboring gene small nucleolar RNA, H/ACA box 9B Neighboring gene eukaryotic translation initiation factor 2B subunit alpha Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7273 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:124129599-124129794 Neighboring gene CDK7 strongly-dependent group 2 enhancer GRCh37_chr12:124143885-124145084 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 7274 Neighboring gene tectonic family member 2 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:124184156-124184331 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 5049 Neighboring gene uncharacterized LOC105370042 Neighboring gene ATPase H+ transporting V0 subunit a2 Neighboring gene ReSE screen-validated silencer GRCh37_chr12:124206184-124206364 Neighboring gene ribosomal protein L27 pseudogene 12

    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
    • 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. DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor. Schaeffer L, et al. Science, 1993 Apr 2. PMID 8465201
    2. Purification and interaction properties of the human RNA polymerase B(II) general transcription factor BTF2. Gerard M, et al. J Biol Chem, 1991 Nov 5. PMID 1939143
    3. Solution structure of the C-terminal domain of TFIIH P44 subunit reveals a novel type of C4C4 ring domain involved in protein-protein interactions. Kellenberger E, et al. J Biol Chem, 2005 May 27. PMID 15790571
    4. The 62- and 80-kDa subunits of transcription factor IIH mediate the interaction with Epstein-Barr virus nuclear protein 2. Tong X, et al. Proc Natl Acad Sci U S A, 1995 Apr 11. PMID 7724549, Free PMC Article
    5. Nucleotide excision repair of DNA with recombinant human proteins: definition of the minimal set of factors, active forms of TFIIH, and modulation by CAK. Araújo SJ, et al. Genes Dev, 2000 Feb 1. PMID 10673506, Free PMC Article

    See all (83) citations in PubMed

    GeneRIFs: Gene References Into Functions

    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    HIV-1 interactions

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    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

    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 RNA polymerase II general transcription initiation factor activity IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables metal ion binding IEA
    Inferred from Electronic Annotation
    more info
    		  
    enables protein binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    Process Evidence Code Pubs
    involved_in DNA repair TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in nucleotide-excision repair IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    involved_in regulation of DNA-templated transcription IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    Component Evidence Code Pubs
    part_of core TFIIH complex portion of holo TFIIH complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm TAS
    Traceable Author Statement
    more info
    		  
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of transcription factor TFIID complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    part_of transcription factor TFIIH core complex IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    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 
    part_of transcription preinitiation complex IDA
    Inferred from Direct Assay
    more info
    		 PubMed 

    General protein information

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    Preferred Names
    general transcription factor IIH subunit 3
    Names
    TFIIH basal transcription factor complex p34 subunit
    basic transcription factor 2 34 kDa subunit
    general transcription factor IIH, polypeptide 3, 34kDa

    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_001271866.2 → NP_001258795.1  general transcription factor IIH subunit 3 isoform b

      See identical proteins and their annotated locations for NP_001258795.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) lacks two in-frame exons but maintains the reading frame, compared to variant 1. This variant encodes isoform b, which is shorter than isoform a.
      Source sequence(s)
      AC117503, AL600169, BC016767, BC039726, BG720598, BM013501, CA306634, CB955773, DB170244
      UniProtKB/TrEMBL
      F5GWD3
      Related
      ENSP00000441894.1, ENST00000536375.5
      Conserved Domains (1) summary
      cl22919
      Location:7 → 246
      Tfb4; Transcription factor Tfb4

    2. NM_001271867.2 → NP_001258796.1  general transcription factor IIH subunit 3 isoform c

      See identical proteins and their annotated locations for NP_001258796.1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks an exon in the central coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (c) has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AC117503, AK298128, BC013216, BC016767, BC039726, BM013501, CA306634, CB955773
      Consensus CDS
      CCDS61275.1
      UniProtKB/TrEMBL
      Q8NEI1
      Related
      ENSP00000228955.7, ENST00000228955.11
      Conserved Domains (1) summary
      cl22919
      Location:1 → 248
      Tfb4; Transcription factor Tfb4

    3. NM_001271868.2 → NP_001258797.1  general transcription factor IIH subunit 3 isoform d

      Status: REVIEWED

      Description
      Transcript Variant: This variant (4) lacks an exon in the central coding region and initiates translation at an alternate start codon, compared to variant 1. The encoded isoform (d) has a shorter N-terminus compared to isoform a.
      Source sequence(s)
      AC117503, BC016767, BC039726, BM013501, CA306634, CB955773, DA953586
      Consensus CDS
      CCDS73544.1
      UniProtKB/TrEMBL
      A0A087WYD5
      Related
      ENSP00000481711.1, ENST00000618160.4
      Conserved Domains (1) summary
      cl22919
      Location:1 → 140
      Tfb4; Transcription factor Tfb4

    4. NM_001516.5 → NP_001507.2  general transcription factor IIH subunit 3 isoform a

      See identical proteins and their annotated locations for NP_001507.2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (a).
      Source sequence(s)
      AC117503, AK313200, BC039726, BM013501, CA306634, CB955773
      Consensus CDS
      CCDS9252.1
      UniProtKB/Swiss-Prot
      B2R819, B4DNZ6, Q13889, Q7L0G0, Q96AT7
      UniProtKB/TrEMBL
      F5GWD3
      Related
      ENSP00000445162.1, ENST00000543341.7
      Conserved Domains (1) summary
      TIGR00627
      Location:7 → 289
      tfb4; transcription factor tfb4

    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_000012.12 Reference GRCh38.p14 Primary Assembly

      Range
      123633829..123662604
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017019228.3 → XP_016874717.1  general transcription factor IIH subunit 3 isoform X1

      UniProtKB/TrEMBL
      A0A087WYD5
      Conserved Domains (1) summary
      cl22919
      Location:1 → 140
      Tfb4; Transcription factor Tfb4

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060936.1 Alternate T2T-CHM13v2.0

      Range
      123632693..123661470
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054371876.1 → XP_054227851.1  general transcription factor IIH subunit 3 isoform X1

      UniProtKB/TrEMBL
      A0A087WYD5
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q13889.2 GenPept UniProtKB/Swiss-Prot:Q13889

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