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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
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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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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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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)

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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