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

Gene ID: 2967, updated on 12-Nov-2017
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; Vega:OTTHUMG00000168697
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
Location:
12q24.31
Exon count:
13
Annotation release Status Assembly Chr Location
108 current GRCh38.p7 (GCF_000001405.33) 12 NC_000012.12 (123633739..123662604)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 12 NC_000012.11 (124118286..124147151)

Chromosome 12 - NC_000012.12Genomic Context describing neighboring genes Neighboring gene transmembrane p24 trafficking protein 2 Neighboring gene uncharacterized LOC105370041 Neighboring gene DEAD-box helicase 55 Neighboring gene eukaryotic translation initiation factor 2B subunit alpha Neighboring gene tectonic family member 2 Neighboring gene uncharacterized LOC105370042 Neighboring gene ATPase H+ transporting V0 subunit a2 Neighboring gene ribosomal protein L27 pseudogene 12

  • 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 Jun 15 11:32:44 2016

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

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

Products Interactant Other Gene Complex Source Pubs Description

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
DNA binding transcription factor activity NAS
Non-traceable Author Statement
more info
PubMed 
contributes_to DNA-dependent ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to RNA polymerase II carboxy-terminal domain kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
damaged DNA binding TAS
Traceable Author Statement
more info
PubMed 
metal ion binding IEA
Inferred from Electronic Annotation
more info
 
protein N-terminus binding IPI
Inferred from Physical Interaction
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to protein kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
translation factor activity, RNA binding TAS
Traceable Author Statement
more info
PubMed 
Process Evidence Code Pubs
7-methylguanosine mRNA capping TAS
Traceable Author Statement
more info
 
DNA repair TAS
Traceable Author Statement
more info
PubMed 
global genome nucleotide-excision repair TAS
Traceable Author Statement
more info
 
nucleotide-excision repair IBA
Inferred from Biological aspect of Ancestor
more info
 
nucleotide-excision repair, DNA duplex unwinding TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA incision TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA incision, 3'-to lesion TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, DNA incision, 5'-to lesion TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, preincision complex assembly TAS
Traceable Author Statement
more info
 
nucleotide-excision repair, preincision complex stabilization TAS
Traceable Author Statement
more info
 
phosphorylation of RNA polymerase II C-terminal domain IBA
Inferred from Biological aspect of Ancestor
more info
 
termination of RNA polymerase I transcription TAS
Traceable Author Statement
more info
 
transcription elongation from RNA polymerase I promoter TAS
Traceable Author Statement
more info
 
transcription elongation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
transcription from RNA polymerase II promoter IDA
Inferred from Direct Assay
more info
PubMed 
transcription from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
transcription initiation from RNA polymerase I promoter TAS
Traceable Author Statement
more info
 
transcription initiation from RNA polymerase II promoter TAS
Traceable Author Statement
more info
 
transcription-coupled nucleotide-excision repair TAS
Traceable Author Statement
more info
 
translation IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
core TFIIH complex portion of holo TFIIH complex IDA
Inferred from Direct Assay
more info
PubMed 
holo TFIIH complex IDA
Inferred from Direct Assay
more info
PubMed 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 
transcription factor TFIID complex IDA
Inferred from Direct Assay
more info
PubMed 
transcriptional preinitiation complex IDA
Inferred from Direct Assay
more info
PubMed 
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

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_001271866.1NP_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, HY046873
    UniProtKB/Swiss-Prot
    Q13889
    Related
    ENSP00000441894.1, OTTHUMP00000239211, ENST00000536375.5, OTTHUMT00000400644
    Conserved Domains (1) summary
    cl22919
    Location:7246
    Tfb4; Transcription factor Tfb4
  2. NM_001271867.1NP_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, DB482432, HY046873
    Consensus CDS
    CCDS61275.1
    UniProtKB/Swiss-Prot
    Q13889
    Related
    ENSP00000228955.7, OTTHUMP00000239209, ENST00000228955.11, OTTHUMT00000400640
    Conserved Domains (1) summary
    cl22919
    Location:1248
    Tfb4; Transcription factor Tfb4
  3. NM_001271868.1NP_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, AL558542, BC016767, BC039726, BM013501, CA306634, CB955773, DA953586, HY046873
    Consensus CDS
    CCDS73544.1
    UniProtKB/Swiss-Prot
    Q13889
    UniProtKB/TrEMBL
    A0A087WYD5
    Related
    ENSP00000481711.1, ENST00000618160.4
    Conserved Domains (1) summary
    cl22919
    Location:1143
    Tfb4; Transcription factor Tfb4
  4. NM_001516.4NP_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, DC319942, HY046873
    Consensus CDS
    CCDS9252.1
    UniProtKB/Swiss-Prot
    Q13889
    Related
    ENSP00000445162.1, OTTHUMP00000239210, ENST00000543341.6, OTTHUMT00000400641
    Conserved Domains (1) summary
    TIGR00627
    Location:7289
    tfb4; transcription factor tfb4

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108

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

Reference GRCh38.p7 Primary Assembly

Genomic

  1. NC_000012.12 Reference GRCh38.p7 Primary Assembly

    Range
    123633739..123662604
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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

    UniProtKB/TrEMBL
    A0A087WYD5
    Conserved Domains (1) summary
    cl22919
    Location:1143
    Tfb4; Transcription factor Tfb4

RNA

  1. XR_001748675.1 RNA Sequence

Alternate CHM1_1.1

Genomic

  1. NC_018923.2 Alternate CHM1_1.1

    Range
    123939235..123968101
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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