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

Gene ID: 2967, updated on 5-Mar-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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Location:
12q24.31
Exon count:
13
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 12 NC_000012.12 (123633829..123662604)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 12 NC_060936.1 (123632693..123661470)
105.20220307 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 (81) 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)

Genotypes

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_2023_10

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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