UniProtKB - Q92759 (TF2H4_HUMAN)
General transcription factor IIH subunit 4
GTF2H4
Functioni
Component of the general transcription and DNA repair factor IIH (TFIIH) core complex, which is involved in general and transcription-coupled nucleotide excision repair (NER) of damaged DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II. In NER, TFIIH acts by opening DNA around the lesion to allow the excision of the damaged oligonucleotide and its replacement by a new DNA fragment. In transcription, TFIIH has an essential role in transcription initiation. When the pre-initiation complex (PIC) has been established, TFIIH is required for promoter opening and promoter escape. Phosphorylation of the C-terminal tail (CTD) of the largest subunit of RNA polymerase II by the kinase module CAK controls the initiation of transcription.
1 PublicationGO - Molecular functioni
- ATPase activator activity Source: InterPro
- double-stranded DNA binding Source: GO_Central
- RNA polymerase II general transcription initiation factor activity Source: ARUK-UCL
GO - Biological processi
- DNA repair Source: ProtInc
- nucleotide-excision repair Source: GO_Central
- phosphorylation of RNA polymerase II C-terminal domain Source: GO_Central
- transcription by RNA polymerase II Source: UniProtKB
Keywordsi
Biological process | DNA damage, DNA repair, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q92759 |
Reactomei | R-HSA-112382, Formation of RNA Pol II elongation complex R-HSA-113418, Formation of the Early Elongation Complex R-HSA-167152, Formation of HIV elongation complex in the absence of HIV Tat R-HSA-167158, Formation of the HIV-1 Early Elongation Complex R-HSA-167160, RNA Pol II CTD phosphorylation and interaction with CE during HIV infection R-HSA-167161, HIV Transcription Initiation R-HSA-167162, RNA Polymerase II HIV Promoter Escape R-HSA-167172, Transcription of the HIV genome R-HSA-167200, Formation of HIV-1 elongation complex containing HIV-1 Tat R-HSA-167246, Tat-mediated elongation of the HIV-1 transcript R-HSA-427413, NoRC negatively regulates rRNA expression R-HSA-5696395, Formation of Incision Complex in GG-NER R-HSA-5696400, Dual Incision in GG-NER R-HSA-674695, RNA Polymerase II Pre-transcription Events R-HSA-6781823, Formation of TC-NER Pre-Incision Complex R-HSA-6781827, Transcription-Coupled Nucleotide Excision Repair (TC-NER) R-HSA-6782135, Dual incision in TC-NER R-HSA-6782210, Gap-filling DNA repair synthesis and ligation in TC-NER R-HSA-6796648, TP53 Regulates Transcription of DNA Repair Genes R-HSA-72086, mRNA Capping R-HSA-73762, RNA Polymerase I Transcription Initiation R-HSA-73772, RNA Polymerase I Promoter Escape R-HSA-73776, RNA Polymerase II Promoter Escape R-HSA-73779, RNA Polymerase II Transcription Pre-Initiation And Promoter Opening R-HSA-73863, RNA Polymerase I Transcription Termination R-HSA-75953, RNA Polymerase II Transcription Initiation R-HSA-75955, RNA Polymerase II Transcription Elongation R-HSA-76042, RNA Polymerase II Transcription Initiation And Promoter Clearance R-HSA-77075, RNA Pol II CTD phosphorylation and interaction with CE |
SignaLinki | Q92759 |
Names & Taxonomyi
Protein namesi | Recommended name: General transcription factor IIH subunit 4Alternative name(s): Basic transcription factor 2 52 kDa subunit Short name: BTF2 p52 General transcription factor IIH polypeptide 4 TFIIH basal transcription factor complex p52 subunit |
Gene namesi | Name:GTF2H4 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:4658, GTF2H4 |
MIMi | 601760, gene |
neXtProti | NX_Q92759 |
VEuPathDBi | HostDB:ENSG00000213780 |
Subcellular locationi
Nucleus
Nucleus
- core TFIIH complex portion of holo TFIIH complex Source: UniProtKB
- nuclear speck Source: HPA
- nucleoplasm Source: Reactome
- nucleus Source: UniProtKB
- transcription factor TFIID complex Source: UniProtKB
- transcription factor TFIIH core complex Source: GO_Central
- transcription factor TFIIH holo complex Source: UniProtKB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Organism-specific databases
DisGeNETi | 2968 |
OpenTargetsi | ENSG00000213780 |
PharmGKBi | PA29044 |
Miscellaneous databases
Pharosi | Q92759, Tbio |
Genetic variation databases
BioMutai | GTF2H4 |
DMDMi | 17380328 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000119253 | 1 – 462 | General transcription factor IIH subunit 4Add BLAST | 462 |
Proteomic databases
EPDi | Q92759 |
jPOSTi | Q92759 |
MassIVEi | Q92759 |
MaxQBi | Q92759 |
PaxDbi | Q92759 |
PeptideAtlasi | Q92759 |
PRIDEi | Q92759 |
ProteomicsDBi | 5110 75447 [Q92759-1] |
TopDownProteomicsi | Q92759-1 [Q92759-1] |
PTM databases
iPTMneti | Q92759 |
PhosphoSitePlusi | Q92759 |
Expressioni
Gene expression databases
Bgeei | ENSG00000213780, Expressed in left lobe of thyroid gland and 113 other tissues |
ExpressionAtlasi | Q92759, baseline and differential |
Genevisiblei | Q92759, HS |
Organism-specific databases
HPAi | ENSG00000213780, Low tissue specificity |
Interactioni
Subunit structurei
Component of the 7-subunit TFIIH core complex composed of XPB/ERCC3, XPD/ERCC2, GTF2H1, GTF2H2, GTF2H3, GTF2H4 and GTF2H5, which is active in NER. The core complex associates with the 3-subunit CDK-activating kinase (CAK) module composed of CCNH/cyclin H, CDK7 and MNAT1 to form the 10-subunit holoenzyme (holo-TFIIH) active in transcription.
1 PublicationBinary interactionsi
Q92759
With | #Exp. | IntAct |
---|---|---|
EAF1 [Q96JC9] | 3 | EBI-6380495,EBI-769261 |
EIF1AD [Q8N9N8] | 3 | EBI-6380495,EBI-750700 |
GTF2H5 [Q6ZYL4] | 9 | EBI-6380495,EBI-6380438 |
SREK1IP1 [Q8N9Q2] | 3 | EBI-6380495,EBI-10268630 |
Protein-protein interaction databases
BioGRIDi | 109223, 89 interactors |
CORUMi | Q92759 |
DIPi | DIP-48376N |
IntActi | Q92759, 19 interactors |
MINTi | Q92759 |
STRINGi | 9606.ENSP00000259895 |
Miscellaneous databases
RNActi | Q92759, protein |
Structurei
Secondary structure
3D structure databases
AlphaFoldDBi | Q92759 |
SMRi | Q92759 |
ModBasei | Search... |
PDBe-KBi | Search... |
Family & Domainsi
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG3471, Eukaryota |
GeneTreei | ENSGT00390000014159 |
HOGENOMi | CLU_027280_4_0_1 |
InParanoidi | Q92759 |
OMAi | LWENERN |
PhylomeDBi | Q92759 |
TreeFami | TF300879 |
Family and domain databases
InterProi | View protein in InterPro IPR040662, Tfb2_C IPR004598, TFIIH_p52/Tfb2 |
PANTHERi | PTHR13152, PTHR13152, 1 hit |
Pfami | View protein in Pfam PF03849, Tfb2, 1 hit PF18307, Tfb2_C, 1 hit |
TIGRFAMsi | TIGR00625, tfb2, 1 hit |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MESTPSRGLN RVHLQCRNLQ EFLGGLSPGV LDRLYGHPAT CLAVFRELPS
60 70 80 90 100
LAKNWVMRML FLEQPLPQAA VALWVKKEFS KAQEESTGLL SGLRIWHTQL
110 120 130 140 150
LPGGLQGLIL NPIFRQNLRI ALLGGGKAWS DDTSQLGPDK HARDVPSLDK
160 170 180 190 200
YAEERWEVVL HFMVGSPSAA VSQDLAQLLS QAGLMKSTEP GEPPCITSAG
210 220 230 240 250
FQFLLLDTPA QLWYFMLQYL QTAQSRGMDL VEILSFLFQL SFSTLGKDYS
260 270 280 290 300
VEGMSDSLLN FLQHLREFGL VFQRKRKSRR YYPTRLAINL SSGVSGAGGT
310 320 330 340 350
VHQPGFIVVE TNYRLYAYTE SELQIALIAL FSEMLYRFPN MVVAQVTRES
360 370 380 390 400
VQQAIASGIT AQQIIHFLRT RAHPVMLKQT PVLPPTITDQ IRLWELERDR
410 420 430 440 450
LRFTEGVLYN QFLSQVDFEL LLAHARELGV LVFENSAKRL MVVTPAGHSD
460
VKRFWKRQKH SS
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketA0A0G2JHJ2 | A0A0G2JHJ2_HUMAN | General transcription factor IIH su... | GTF2H4 | 138 | Annotation score: |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_019056 | 337 | R → Q1 PublicationCorresponds to variant dbSNP:rs3218820Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056835 | 1 – 56 | Missing in isoform 2. 1 PublicationAdd BLAST | 56 | |
Alternative sequenceiVSP_056836 | 276 | R → V in isoform 2. 1 Publication | 1 | |
Alternative sequenceiVSP_056837 | 277 – 462 | Missing in isoform 2. 1 PublicationAdd BLAST | 186 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Y07595 mRNA Translation: CAA68870.1 BA000025 Genomic DNA Translation: BAB63317.1 BT007321 mRNA Translation: AAP35985.1 AY124590 Genomic DNA Translation: AAM64222.1 AB088103 Genomic DNA Translation: BAC54936.1 AB202101 Genomic DNA Translation: BAE78622.1 AB103609 Genomic DNA Translation: BAF31271.1 AK300239 mRNA Translation: BAG62007.1 AL662870 Genomic DNA No translation available. AL669830 Genomic DNA No translation available. AL773541 Genomic DNA No translation available. BX927194 Genomic DNA No translation available. CR759747 Genomic DNA No translation available. CR936875 Genomic DNA No translation available. CH471081 Genomic DNA Translation: EAX03347.1 BC004935 mRNA Translation: AAH04935.1 BC016302 mRNA Translation: AAH16302.1 |
CCDSi | CCDS34386.1 [Q92759-1] |
RefSeqi | NP_001508.1, NM_001517.4 [Q92759-1] |
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
NIEHS-SNPs |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | Y07595 mRNA Translation: CAA68870.1 BA000025 Genomic DNA Translation: BAB63317.1 BT007321 mRNA Translation: AAP35985.1 AY124590 Genomic DNA Translation: AAM64222.1 AB088103 Genomic DNA Translation: BAC54936.1 AB202101 Genomic DNA Translation: BAE78622.1 AB103609 Genomic DNA Translation: BAF31271.1 AK300239 mRNA Translation: BAG62007.1 AL662870 Genomic DNA No translation available. AL669830 Genomic DNA No translation available. AL773541 Genomic DNA No translation available. BX927194 Genomic DNA No translation available. CR759747 Genomic DNA No translation available. CR936875 Genomic DNA No translation available. CH471081 Genomic DNA Translation: EAX03347.1 BC004935 mRNA Translation: AAH04935.1 BC016302 mRNA Translation: AAH16302.1 |
CCDSi | CCDS34386.1 [Q92759-1] |
RefSeqi | NP_001508.1, NM_001517.4 [Q92759-1] |
3D structure databases
Select the link destinations: PDBei RCSB PDBi PDBji Links Updated | PDB entry | Method | Resolution (Å) | Chain | Positions | PDBsum |
5IVW | electron microscopy | 10.00 | 2 | 1-462 | [»] | |
5IY6 | electron microscopy | 7.20 | 2 | 1-462 | [»] | |
5IY7 | electron microscopy | 8.60 | 2 | 1-462 | [»] | |
5IY8 | electron microscopy | 7.90 | 2 | 1-462 | [»] | |
5IY9 | electron microscopy | 6.30 | 2 | 1-462 | [»] | |
5OF4 | electron microscopy | 4.40 | D | 383-462 | [»] | |
6NMI | electron microscopy | 3.70 | D | 1-462 | [»] | |
6O9L | electron microscopy | 7.20 | 2 | 1-462 | [»] | |
6O9M | electron microscopy | 4.40 | 2 | 1-462 | [»] | |
6RO4 | electron microscopy | 3.50 | C | 1-462 | [»] | |
7AD8 | electron microscopy | 3.50 | C | 1-462 | [»] | |
7EGB | electron microscopy | 3.30 | 4 | 1-462 | [»] | |
7EGC | electron microscopy | 3.90 | 4 | 1-462 | [»] | |
7ENA | electron microscopy | 4.07 | 4 | 1-462 | [»] | |
7ENC | electron microscopy | 4.13 | 4 | 1-462 | [»] | |
7LBM | electron microscopy | 4.80 | Z | 1-462 | [»] | |
7NVR | electron microscopy | 4.50 | 2 | 1-462 | [»] | |
7NVV | electron microscopy | 2.90 | 2 | 1-462 | [»] | |
7NVW | electron microscopy | 4.30 | 2 | 1-462 | [»] | |
7NVX | electron microscopy | 3.90 | 2 | 1-462 | [»] | |
7NVY | electron microscopy | 7.30 | 2 | 1-462 | [»] | |
7NVZ | electron microscopy | 7.20 | 2 | 1-462 | [»] | |
7NW0 | electron microscopy | 6.60 | 2 | 1-462 | [»] | |
AlphaFoldDBi | Q92759 | |||||
SMRi | Q92759 | |||||
ModBasei | Search... | |||||
PDBe-KBi | Search... |
Protein-protein interaction databases
BioGRIDi | 109223, 89 interactors |
CORUMi | Q92759 |
DIPi | DIP-48376N |
IntActi | Q92759, 19 interactors |
MINTi | Q92759 |
STRINGi | 9606.ENSP00000259895 |
PTM databases
iPTMneti | Q92759 |
PhosphoSitePlusi | Q92759 |
Genetic variation databases
BioMutai | GTF2H4 |
DMDMi | 17380328 |
Proteomic databases
EPDi | Q92759 |
jPOSTi | Q92759 |
MassIVEi | Q92759 |
MaxQBi | Q92759 |
PaxDbi | Q92759 |
PeptideAtlasi | Q92759 |
PRIDEi | Q92759 |
ProteomicsDBi | 5110 75447 [Q92759-1] |
TopDownProteomicsi | Q92759-1 [Q92759-1] |
Protocols and materials databases
Antibodypediai | 48243, 190 antibodies from 25 providers |
DNASUi | 2968 |
Genome annotation databases
Organism-specific databases
CTDi | 2968 |
DisGeNETi | 2968 |
GeneCardsi | GTF2H4 |
HGNCi | HGNC:4658, GTF2H4 |
HPAi | ENSG00000213780, Low tissue specificity |
MIMi | 601760, gene |
neXtProti | NX_Q92759 |
OpenTargetsi | ENSG00000213780 |
PharmGKBi | PA29044 |
VEuPathDBi | HostDB:ENSG00000213780 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG3471, Eukaryota |
GeneTreei | ENSGT00390000014159 |
HOGENOMi | CLU_027280_4_0_1 |
InParanoidi | Q92759 |
OMAi | LWENERN |
PhylomeDBi | Q92759 |
TreeFami | TF300879 |
Enzyme and pathway databases
PathwayCommonsi | Q92759 |
Reactomei | R-HSA-112382, Formation of RNA Pol II elongation complex R-HSA-113418, Formation of the Early Elongation Complex R-HSA-167152, Formation of HIV elongation complex in the absence of HIV Tat R-HSA-167158, Formation of the HIV-1 Early Elongation Complex R-HSA-167160, RNA Pol II CTD phosphorylation and interaction with CE during HIV infection R-HSA-167161, HIV Transcription Initiation R-HSA-167162, RNA Polymerase II HIV Promoter Escape R-HSA-167172, Transcription of the HIV genome R-HSA-167200, Formation of HIV-1 elongation complex containing HIV-1 Tat R-HSA-167246, Tat-mediated elongation of the HIV-1 transcript R-HSA-427413, NoRC negatively regulates rRNA expression R-HSA-5696395, Formation of Incision Complex in GG-NER R-HSA-5696400, Dual Incision in GG-NER R-HSA-674695, RNA Polymerase II Pre-transcription Events R-HSA-6781823, Formation of TC-NER Pre-Incision Complex R-HSA-6781827, Transcription-Coupled Nucleotide Excision Repair (TC-NER) R-HSA-6782135, Dual incision in TC-NER R-HSA-6782210, Gap-filling DNA repair synthesis and ligation in TC-NER R-HSA-6796648, TP53 Regulates Transcription of DNA Repair Genes R-HSA-72086, mRNA Capping R-HSA-73762, RNA Polymerase I Transcription Initiation R-HSA-73772, RNA Polymerase I Promoter Escape R-HSA-73776, RNA Polymerase II Promoter Escape R-HSA-73779, RNA Polymerase II Transcription Pre-Initiation And Promoter Opening R-HSA-73863, RNA Polymerase I Transcription Termination R-HSA-75953, RNA Polymerase II Transcription Initiation R-HSA-75955, RNA Polymerase II Transcription Elongation R-HSA-76042, RNA Polymerase II Transcription Initiation And Promoter Clearance R-HSA-77075, RNA Pol II CTD phosphorylation and interaction with CE |
SignaLinki | Q92759 |
Miscellaneous databases
BioGRID-ORCSi | 2968, 558 hits in 1091 CRISPR screens |
ChiTaRSi | GTF2H4, human |
GeneWikii | GTF2H4 |
GenomeRNAii | 2968 |
Pharosi | Q92759, Tbio |
PROi | PR:Q92759 |
RNActi | Q92759, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000213780, Expressed in left lobe of thyroid gland and 113 other tissues |
ExpressionAtlasi | Q92759, baseline and differential |
Genevisiblei | Q92759, HS |
Family and domain databases
InterProi | View protein in InterPro IPR040662, Tfb2_C IPR004598, TFIIH_p52/Tfb2 |
PANTHERi | PTHR13152, PTHR13152, 1 hit |
Pfami | View protein in Pfam PF03849, Tfb2, 1 hit PF18307, Tfb2_C, 1 hit |
TIGRFAMsi | TIGR00625, tfb2, 1 hit |
MobiDBi | Search... |
Entry informationi
Entry namei | TF2H4_HUMAN | |
Accessioni | Q92759Primary (citable) accession number: Q92759 Secondary accession number(s): B4DTJ5, Q76KU4 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | October 18, 2001 |
Last sequence update: | February 1, 1997 | |
Last modified: | May 25, 2022 | |
This is version 191 of the entry and version 1 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
3D-structure, Reference proteomeDocuments
- Human chromosome 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - PDB cross-references
Index of Protein Data Bank (PDB) cross-references - SIMILARITY comments
Index of protein domains and families