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

Gene ID: 2965, updated on 6-Jan-2019

Summary

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
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
Expression
Ubiquitous expression in testis (RPKM 18.1), thyroid (RPKM 12.6) and 25 other tissues See more
Orthologs

Genomic context

See GTF2H1 in Genome Data Viewer
Location:
11p15.1
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 11 NC_000011.10 (18322269..18367043)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (18343816..18388590)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene RNA, 5S ribosomal pseudogene 334 Neighboring gene ST13, Hsp70 interacting protein pseudogene 5 Neighboring gene serum amyloid A1 Neighboring gene HPS5, biogenesis of lysosomal organelles complex 2 subunit 2 Neighboring gene uncharacterized LOC105376577 Neighboring gene microRNA 3159 Neighboring gene lactate dehydrogenase A

Genomic regions, transcripts, and products

Expression

  • 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

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

NHGRI GWAS Catalog

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

HIV-1 interactions

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 BioSystems

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
contributes_to DNA-dependent ATPase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to DNA-dependent ATPase activity IDA
Inferred from Direct Assay
more info
PubMed 
contributes_to RNA polymerase II CTD heptapeptide repeat kinase activity IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
contributes_to RNA polymerase II CTD heptapeptide repeat kinase activity IDA
Inferred from Direct Assay
more info
PubMed 
chromatin binding IEA
Inferred from Electronic Annotation
more info
 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
contributes_to protein kinase activity IDA
Inferred from Direct Assay
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, DNA incision 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
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
regulation of cyclin-dependent protein serine/threonine kinase activity TAS
Traceable Author Statement
more info
PubMed 
termination of RNA polymerase I transcription TAS
Traceable Author Statement
more info
 
transcription by RNA polymerase I IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
transcription by RNA polymerase II TAS
Traceable Author Statement
more info
 
transcription elongation 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
 
Component Evidence Code Pubs
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleoplasm TAS
Traceable Author Statement
more info
 
transcription factor TFIIH core complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor TFIIH holo complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
transcription factor TFIIH holo complex IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

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)

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_001142307.1NP_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
    P32780
    Related
    ENSP00000393638.2, ENST00000453096.6
    Conserved Domains (2) summary
    smart00751
    Location:182232
    BSD; domain in transcription factors and synapse-associated proteins
    cd13229
    Location:9102
    PH_TFIIH; Transcription Factor II H (TFIIH) Pleckstrin homology (PH) domain
  2. NM_005316.4NP_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
    P32780
    Related
    ENSP00000265963.4, ENST00000265963.8
    Conserved Domains (2) summary
    smart00751
    Location:182232
    BSD; domain in transcription factors and synapse-associated proteins
    cd13229
    Location:9102
    PH_TFIIH; Transcription Factor II H (TFIIH) Pleckstrin homology (PH) domain

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p12 Primary Assembly

    Range
    18322269..18367043
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_006718208.3XP_006718271.1  general transcription factor IIH subunit 1 isoform X1

    See identical proteins and their annotated locations for XP_006718271.1

    UniProtKB/Swiss-Prot
    P32780
    Conserved Domains (2) summary
    smart00751
    Location:182232
    BSD; domain in transcription factors and synapse-associated proteins
    cd13229
    Location:9102
    PH_TFIIH; Transcription Factor II H (TFIIH) Pleckstrin homology (PH) domain
  2. XM_024448457.1XP_024304225.1  general transcription factor IIH subunit 1 isoform X1

    Conserved Domains (2) summary
    smart00751
    Location:182232
    BSD; domain in transcription factors and synapse-associated proteins
    cd13229
    Location:9102
    PH_TFIIH; Transcription Factor II H (TFIIH) Pleckstrin homology (PH) domain
  3. XM_024448458.1XP_024304226.1  general transcription factor IIH subunit 1 isoform X1

    Conserved Domains (2) summary
    smart00751
    Location:182232
    BSD; domain in transcription factors and synapse-associated proteins
    cd13229
    Location:9102
    PH_TFIIH; Transcription Factor II H (TFIIH) Pleckstrin homology (PH) domain
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