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

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; 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, Dec 2024]
Expression: Ubiquitous expression in testis (RPKM 18.1), thyroid (RPKM 12.6) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

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_000011.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

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.
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.
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.
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.
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.
GTF2H1 is a direct transcriptional target of MITF.
Title: Lineage-specific control of TFIIH by MITF determines transcriptional homeostasis and DNA repair.
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.
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.
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.
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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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

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 EBI GWAS CatalogPubMed
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 EBI GWAS CatalogPubMed
Genome-wide association study of survival in patients with pancreatic adenocarcinoma. EBI GWAS Catalog EBI GWAS CatalogPubMed

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

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

RH79042 (e-PCR)
- UniSTS:11294

RH65846 (e-PCR)
- UniSTS:46627

G54112 (e-PCR)
- UniSTS:109349

SHGC-112034 (e-PCR)
- UniSTS:182364

GTF2H1 (e-PCR)
- UniSTS:16235

RH118763 (e-PCR)
- UniSTS:138175

SHGC-30910 (e-PCR)
- UniSTS:65237

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)

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
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

NC_000011.10 Reference GRCh38.p14 Primary Assembly

Range

18322567..18367045

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

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
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
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