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UniProtKB - Q92759 (TF2H4_HUMAN)

Protein

General transcription factor IIH subunit 4

Gene

GTF2H4

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 Publication

GO - Molecular functioni

  • ATPase activator activity Source: InterPro
  • DNA-binding transcription factor activity Source: ProtInc
  • double-stranded DNA binding Source: GO_Central
View the complete GO annotation on QuickGO ...

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processDNA damage, DNA repair, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-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-73777 RNA Polymerase I Chain Elongation
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

Names & Taxonomyi

Protein namesi
Recommended name:
General transcription factor IIH subunit 4
Alternative 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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000213780.10
HGNCiHGNC:4658 GTF2H4
MIMi601760 gene
neXtProtiNX_Q92759

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi2968
OpenTargetsiENSG00000213780
PharmGKBiPA29044

Polymorphism and mutation databases

BioMutaiGTF2H4
DMDMi17380328

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001192531 – 462General transcription factor IIH subunit 4Add BLAST462

Proteomic databases

EPDiQ92759
MaxQBiQ92759
PaxDbiQ92759
PeptideAtlasiQ92759
PRIDEiQ92759
ProteomicsDBi75447
TopDownProteomicsiQ92759-1 [Q92759-1]

PTM databases

iPTMnetiQ92759
PhosphoSitePlusiQ92759

Expressioni

Gene expression databases

BgeeiENSG00000213780 Expressed in 88 organ(s), highest expression level in left lobe of thyroid gland
CleanExiHS_GTF2H4
ExpressionAtlasiQ92759 baseline and differential
GenevisibleiQ92759 HS

Organism-specific databases

HPAiHPA074336

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 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
GTF2H5Q6ZYL45EBI-6380495,EBI-6380438

Protein-protein interaction databases

BioGridi109223, 55 interactors
CORUMiQ92759
DIPiDIP-48376N
IntActiQ92759, 12 interactors
STRINGi9606.ENSP00000259895

Structurei

3D structure databases

ProteinModelPortaliQ92759
SMRiQ92759
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the TFB2 family.Curated

Phylogenomic databases

eggNOGiKOG3471 Eukaryota
COG5144 LUCA
GeneTreeiENSGT00390000014159
HOGENOMiHOG000170529
HOVERGENiHBG054205
InParanoidiQ92759
KOiK03144
OMAiYLEQYAH
OrthoDBiEOG09370BDQ
PhylomeDBiQ92759
TreeFamiTF300879

Family and domain databases

InterProiView protein in InterPro
IPR004598 TFIIH_p52/Tfb2
PANTHERiPTHR13152 PTHR13152, 1 hit
PfamiView protein in Pfam
PF03849 Tfb2, 1 hit
TIGRFAMsiTIGR00625 tfb2, 1 hit

Sequences (2+)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: Q92759-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        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
Length:462
Mass (Da):52,186
Last modified:February 1, 1997 - v1
Checksum:i5532DAD617CA743C
GO
Isoform 2 (identifier: Q92759-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-56: Missing.
     276-276: R → V
     277-462: Missing.

Note: No experimental confirmation available.
Show »
Length:220
Mass (Da):24,630
Checksum:i228E05CA69873FDF
GO

Computationally mapped potential isoform sequencesi

There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A0G2JHJ2A0A0G2JHJ2_HUMAN
General transcription factor IIH su...
GTF2H4
138Annotation score:

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_019056337R → Q1 PublicationCorresponds to variant dbSNP:rs3218820Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0568351 – 56Missing in isoform 2. 1 PublicationAdd BLAST56
Alternative sequenceiVSP_056836276R → V in isoform 2. 1 Publication1
Alternative sequenceiVSP_056837277 – 462Missing in isoform 2. 1 PublicationAdd BLAST186

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
CCDSiCCDS34386.1 [Q92759-1]
RefSeqiNP_001508.1, NM_001517.4 [Q92759-1]
UniGeneiHs.485070

Genome annotation databases

EnsembliENST00000259895; ENSP00000259895; ENSG00000213780 [Q92759-1]
ENST00000376316; ENSP00000365493; ENSG00000213780 [Q92759-1]
ENST00000376326; ENSP00000365504; ENSG00000221974 [Q92759-1]
ENST00000400450; ENSP00000383300; ENSG00000221974 [Q92759-1]
ENST00000413314; ENSP00000396251; ENSG00000236895 [Q92759-1]
ENST00000416773; ENSP00000399554; ENSG00000234370 [Q92759-1]
ENST00000423881; ENSP00000409483; ENSG00000236895 [Q92759-1]
ENST00000434226; ENSP00000403156; ENSG00000234370 [Q92759-1]
ENST00000435498; ENSP00000388227; ENSG00000233149 [Q92759-1]
ENST00000438348; ENSP00000387980; ENSG00000226384 [Q92759-1]
ENST00000440824; ENSP00000401105; ENSG00000226384 [Q92759-1]
ENST00000456968; ENSP00000395497; ENSG00000233149 [Q92759-1]
GeneIDi2968
KEGGihsa:2968
UCSCiuc003nsa.2 human [Q92759-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar 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
CCDSiCCDS34386.1 [Q92759-1]
RefSeqiNP_001508.1, NM_001517.4 [Q92759-1]
UniGeneiHs.485070

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
5IVWelectron microscopy10.0021-462[»]
5IY6electron microscopy7.2021-462[»]
5IY7electron microscopy8.6021-462[»]
5IY8electron microscopy7.9021-462[»]
5IY9electron microscopy6.3021-462[»]
5OF4electron microscopy4.40D383-462[»]
ProteinModelPortaliQ92759
SMRiQ92759
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109223, 55 interactors
CORUMiQ92759
DIPiDIP-48376N
IntActiQ92759, 12 interactors
STRINGi9606.ENSP00000259895

PTM databases

iPTMnetiQ92759
PhosphoSitePlusiQ92759

Polymorphism and mutation databases

BioMutaiGTF2H4
DMDMi17380328

Proteomic databases

EPDiQ92759
MaxQBiQ92759
PaxDbiQ92759
PeptideAtlasiQ92759
PRIDEiQ92759
ProteomicsDBi75447
TopDownProteomicsiQ92759-1 [Q92759-1]

Protocols and materials databases

DNASUi2968
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000259895; ENSP00000259895; ENSG00000213780 [Q92759-1]
ENST00000376316; ENSP00000365493; ENSG00000213780 [Q92759-1]
ENST00000376326; ENSP00000365504; ENSG00000221974 [Q92759-1]
ENST00000400450; ENSP00000383300; ENSG00000221974 [Q92759-1]
ENST00000413314; ENSP00000396251; ENSG00000236895 [Q92759-1]
ENST00000416773; ENSP00000399554; ENSG00000234370 [Q92759-1]
ENST00000423881; ENSP00000409483; ENSG00000236895 [Q92759-1]
ENST00000434226; ENSP00000403156; ENSG00000234370 [Q92759-1]
ENST00000435498; ENSP00000388227; ENSG00000233149 [Q92759-1]
ENST00000438348; ENSP00000387980; ENSG00000226384 [Q92759-1]
ENST00000440824; ENSP00000401105; ENSG00000226384 [Q92759-1]
ENST00000456968; ENSP00000395497; ENSG00000233149 [Q92759-1]
GeneIDi2968
KEGGihsa:2968
UCSCiuc003nsa.2 human [Q92759-1]

Organism-specific databases

CTDi2968
DisGeNETi2968
EuPathDBiHostDB:ENSG00000213780.10
GeneCardsiGTF2H4
HGNCiHGNC:4658 GTF2H4
HPAiHPA074336
MIMi601760 gene
neXtProtiNX_Q92759
OpenTargetsiENSG00000213780
PharmGKBiPA29044
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3471 Eukaryota
COG5144 LUCA
GeneTreeiENSGT00390000014159
HOGENOMiHOG000170529
HOVERGENiHBG054205
InParanoidiQ92759
KOiK03144
OMAiYLEQYAH
OrthoDBiEOG09370BDQ
PhylomeDBiQ92759
TreeFamiTF300879

Enzyme and pathway databases

ReactomeiR-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-73777 RNA Polymerase I Chain Elongation
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

Miscellaneous databases

ChiTaRSiGTF2H4 human
GeneWikiiGTF2H4
GenomeRNAii2968
PROiPR:Q92759
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000213780 Expressed in 88 organ(s), highest expression level in left lobe of thyroid gland
CleanExiHS_GTF2H4
ExpressionAtlasiQ92759 baseline and differential
GenevisibleiQ92759 HS

Family and domain databases

InterProiView protein in InterPro
IPR004598 TFIIH_p52/Tfb2
PANTHERiPTHR13152 PTHR13152, 1 hit
PfamiView protein in Pfam
PF03849 Tfb2, 1 hit
TIGRFAMsiTIGR00625 tfb2, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTF2H4_HUMAN
AccessioniPrimary (citable) accession number: Q92759
Secondary accession number(s): B4DTJ5, Q76KU4
Entry historyiIntegrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: February 1, 1997
Last modified: November 7, 2018
This is version 171 of the entry and version 1 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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, Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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