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Protein

General transcription factor IIH subunit 5

Gene

GTF2H5

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. Necessary for the stability of the TFIIH complex and for the presence of normal levels of TFIIH in the cell.1 Publication

GO - Molecular functioni

GO - Biological processi

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 5
Alternative name(s):
General transcription factor IIH polypeptide 5
TFB5 ortholog
TFIIH basal transcription factor complex TTD-A subunit
Gene namesi
Name:GTF2H5
Synonyms:C6orf175, TTDA
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000272047.1
HGNCiHGNC:21157 GTF2H5
MIMi608780 gene
neXtProtiNX_Q6ZYL4

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

Involvement in diseasei

Trichothiodystrophy 3, photosensitive (TTD3)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of trichothiodystrophy, an autosomal recessive disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder.
See also OMIM:616395
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02264721L → P in TTD3. 1 PublicationCorresponds to variant dbSNP:rs121434365EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Ichthyosis

Organism-specific databases

DisGeNETi404672
MalaCardsiGTF2H5
MIMi616395 phenotype
OpenTargetsiENSG00000272047
Orphaneti33364 Trichothiodystrophy
PharmGKBiPA134962077

Polymorphism and mutation databases

BioMutaiGTF2H5
DMDMi67462047

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001192561 – 71General transcription factor IIH subunit 5Add BLAST71

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei69PhosphothreonineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6ZYL4
MaxQBiQ6ZYL4
PaxDbiQ6ZYL4
PeptideAtlasiQ6ZYL4
PRIDEiQ6ZYL4
ProteomicsDBi68501
TopDownProteomicsiQ6ZYL4

PTM databases

iPTMnetiQ6ZYL4
PhosphoSitePlusiQ6ZYL4

Expressioni

Gene expression databases

BgeeiENSG00000272047 Expressed in 247 organ(s), highest expression level in adrenal cortex
CleanExiHS_GTF2H5
GenevisibleiQ6ZYL4 HS

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

Protein-protein interaction databases

BioGridi135676, 18 interactors
CORUMiQ6ZYL4
DIPiDIP-29188N
IntActiQ6ZYL4, 22 interactors
STRINGi9606.ENSP00000415032

Structurei

Secondary structure

171
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

ProteinModelPortaliQ6ZYL4
SMRiQ6ZYL4
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiQ6ZYL4

Family & Domainsi

Sequence similaritiesi

Belongs to the TFB5 family.Curated

Phylogenomic databases

eggNOGiKOG3451 Eukaryota
ENOG41121VZ LUCA
GeneTreeiENSGT00390000004028
HOVERGENiHBG055393
InParanoidiQ6ZYL4
KOiK10845
OMAiIMENMNP
OrthoDBiEOG091G1339
PhylomeDBiQ6ZYL4
TreeFamiTF319487

Family and domain databases

Gene3Di3.30.70.1220, 1 hit
InterProiView protein in InterPro
IPR035935 TFB5-like_sf
IPR009400 TFIIH_TTDA/Tfb5
PANTHERiPTHR28580 PTHR28580, 1 hit
PfamiView protein in Pfam
PF06331 Tfb5, 1 hit
SMARTiView protein in SMART
SM01395 Tbf5, 1 hit
SUPFAMiSSF142897 SSF142897, 1 hit

Sequencei

Sequence statusi: Complete.

Q6ZYL4-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MVNVLKGVLI ECDPAMKQFL LYLDESNALG KKFIIQDIDD THVFVIAELV
60 70
NVLQERVGEL MDQNAFSLTQ K
Length:71
Mass (Da):8,053
Last modified:July 5, 2004 - v1
Checksum:iDBEB4D3C9BFA2C54
GO

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_02264721L → P in TTD3. 1 PublicationCorresponds to variant dbSNP:rs121434365EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ634743 mRNA Translation: CAG25512.1
AL590703 Genomic DNA No translation available.
BC056906 mRNA Translation: AAH56906.1
BC060317 mRNA Translation: AAH60317.1
CCDSiCCDS5256.1
RefSeqiNP_997001.1, NM_207118.2
UniGeneiHs.356224

Genome annotation databases

EnsembliENST00000607778; ENSP00000476100; ENSG00000272047
GeneIDi404672
KEGGihsa:404672
UCSCiuc003qrd.4 human

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ634743 mRNA Translation: CAG25512.1
AL590703 Genomic DNA No translation available.
BC056906 mRNA Translation: AAH56906.1
BC060317 mRNA Translation: AAH60317.1
CCDSiCCDS5256.1
RefSeqiNP_997001.1, NM_207118.2
UniGeneiHs.356224

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1YDLX-ray2.30A3-71[»]
2JNJNMR-A/B1-71[»]
5IVWelectron microscopy10.0011-71[»]
5IY6electron microscopy7.2011-71[»]
5IY7electron microscopy8.6011-71[»]
5IY8electron microscopy7.9011-71[»]
5IY9electron microscopy6.3011-71[»]
5OF4electron microscopy4.40G1-71[»]
ProteinModelPortaliQ6ZYL4
SMRiQ6ZYL4
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi135676, 18 interactors
CORUMiQ6ZYL4
DIPiDIP-29188N
IntActiQ6ZYL4, 22 interactors
STRINGi9606.ENSP00000415032

PTM databases

iPTMnetiQ6ZYL4
PhosphoSitePlusiQ6ZYL4

Polymorphism and mutation databases

BioMutaiGTF2H5
DMDMi67462047

Proteomic databases

EPDiQ6ZYL4
MaxQBiQ6ZYL4
PaxDbiQ6ZYL4
PeptideAtlasiQ6ZYL4
PRIDEiQ6ZYL4
ProteomicsDBi68501
TopDownProteomicsiQ6ZYL4

Protocols and materials databases

DNASUi404672
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000607778; ENSP00000476100; ENSG00000272047
GeneIDi404672
KEGGihsa:404672
UCSCiuc003qrd.4 human

Organism-specific databases

CTDi404672
DisGeNETi404672
EuPathDBiHostDB:ENSG00000272047.1
GeneCardsiGTF2H5
HGNCiHGNC:21157 GTF2H5
MalaCardsiGTF2H5
MIMi608780 gene
616395 phenotype
neXtProtiNX_Q6ZYL4
OpenTargetsiENSG00000272047
Orphaneti33364 Trichothiodystrophy
PharmGKBiPA134962077
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3451 Eukaryota
ENOG41121VZ LUCA
GeneTreeiENSGT00390000004028
HOVERGENiHBG055393
InParanoidiQ6ZYL4
KOiK10845
OMAiIMENMNP
OrthoDBiEOG091G1339
PhylomeDBiQ6ZYL4
TreeFamiTF319487

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

EvolutionaryTraceiQ6ZYL4
GeneWikiiGTF2H5
GenomeRNAii404672
PROiPR:Q6ZYL4
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000272047 Expressed in 247 organ(s), highest expression level in adrenal cortex
CleanExiHS_GTF2H5
GenevisibleiQ6ZYL4 HS

Family and domain databases

Gene3Di3.30.70.1220, 1 hit
InterProiView protein in InterPro
IPR035935 TFB5-like_sf
IPR009400 TFIIH_TTDA/Tfb5
PANTHERiPTHR28580 PTHR28580, 1 hit
PfamiView protein in Pfam
PF06331 Tfb5, 1 hit
SMARTiView protein in SMART
SM01395 Tbf5, 1 hit
SUPFAMiSSF142897 SSF142897, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiTF2H5_HUMAN
AccessioniPrimary (citable) accession number: Q6ZYL4
Secondary accession number(s): Q0P5V8
Entry historyiIntegrated into UniProtKB/Swiss-Prot: June 7, 2005
Last sequence update: July 5, 2004
Last modified: September 12, 2018
This is version 138 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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. SIMILARITY comments
    Index of protein domains and families
  4. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  6. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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