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Q92759

- TF2H4_HUMAN

UniProt

Q92759 - TF2H4_HUMAN

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Protein
General transcription factor IIH subunit 4
Gene
GTF2H4
Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5 - Experimental evidence at transcript leveli

Functioni

Component of the core-TFIIH basal transcription factor involved in nucleotide excision repair (NER) of DNA and, when complexed to CAK, in RNA transcription by RNA polymerase II.

GO - Molecular functioni

  1. ATP-dependent DNA helicase activity Source: InterPro
  2. protein binding Source: UniProtKB
  3. sequence-specific DNA binding transcription factor activity Source: ProtInc
Complete GO annotation...

GO - Biological processi

  1. 7-methylguanosine mRNA capping Source: Reactome
  2. ATP catabolic process Source: GOC
  3. DNA repair Source: Reactome
  4. gene expression Source: Reactome
  5. nucleotide-excision repair Source: Reactome
  6. nucleotide-excision repair, DNA damage removal Source: Reactome
  7. positive regulation of viral transcription Source: Reactome
  8. protein phosphorylation Source: GOC
  9. termination of RNA polymerase I transcription Source: Reactome
  10. transcription elongation from RNA polymerase I promoter Source: Reactome
  11. transcription elongation from RNA polymerase II promoter Source: Reactome
  12. transcription from RNA polymerase I promoter Source: Reactome
  13. transcription from RNA polymerase II promoter Source: UniProtKB
  14. transcription initiation from RNA polymerase I promoter Source: Reactome
  15. transcription initiation from RNA polymerase II promoter Source: Reactome
  16. transcription-coupled nucleotide-excision repair Source: Reactome
  17. viral process Source: Reactome
Complete GO annotation...

Keywords - Biological processi

DNA damage, DNA repair, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiREACT_1074. RNA Polymerase I Transcription Termination.
REACT_1470. mRNA Capping.
REACT_1655. RNA Polymerase II Transcription Pre-Initiation And Promoter Opening.
REACT_1851. RNA Polymerase II Transcription Initiation.
REACT_1913. RNA Polymerase I Promoter Escape.
REACT_1941. Formation of transcription-coupled NER (TC-NER) repair complex.
REACT_200856. NoRC negatively regulates rRNA expression.
REACT_2089. RNA Polymerase II Promoter Escape.
REACT_2204. RNA Polymerase I Chain Elongation.
REACT_22107. RNA Polymerase II Pre-transcription Events.
REACT_22201. Formation of HIV elongation complex in the absence of HIV Tat.
REACT_2222. Dual incision reaction in TC-NER.
REACT_257. Formation of incision complex in GG-NER.
REACT_311. Dual incision reaction in GG-NER.
REACT_6162. Tat-mediated elongation of the HIV-1 transcript.
REACT_6233. Transcription of the HIV genome.
REACT_6237. RNA Pol II CTD phosphorylation and interaction with CE.
REACT_6253. RNA Polymerase II HIV Promoter Escape.
REACT_6319. Formation of the HIV-1 Early Elongation Complex.
REACT_6332. HIV Transcription Initiation.
REACT_6346. Formation of HIV-1 elongation complex containing HIV-1 Tat.
REACT_833. RNA Polymerase II Transcription Elongation.
REACT_834. RNA Polymerase II Transcription Initiation And Promoter Clearance.
REACT_846. Formation of the Early Elongation Complex.
REACT_953. RNA Polymerase I Transcription Initiation.
REACT_975. 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 lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 6

Organism-specific databases

HGNCiHGNC:4658. GTF2H4.

Subcellular locationi

GO - Cellular componenti

  1. core TFIIH complex Source: InterPro
  2. holo TFIIH complex Source: UniProtKB
  3. nucleoplasm Source: Reactome
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA29044.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 462462General transcription factor IIH subunit 4
PRO_0000119253Add
BLAST

Proteomic databases

MaxQBiQ92759.
PaxDbiQ92759.
PRIDEiQ92759.

PTM databases

PhosphoSiteiQ92759.

Expressioni

Gene expression databases

BgeeiQ92759.
CleanExiHS_GTF2H4.
GenevestigatoriQ92759.

Interactioni

Subunit structurei

One of the 6 subunits forming the core-TFIIH basal transcription factor which associates with the CAK complex composed of CDK7, CCNH/cyclin H and MNAT1 to form the TFIIH basal transcription factor.1 Publication

Protein-protein interaction databases

BioGridi109223. 21 interactions.
DIPiDIP-48376N.
IntActiQ92759. 1 interaction.
MINTiMINT-3049325.
STRINGi9606.ENSP00000259895.

Structurei

3D structure databases

ProteinModelPortaliQ92759.
SMRiQ92759. Positions 382-457.

Family & Domainsi

Sequence similaritiesi

Belongs to the TFB2 family.

Phylogenomic databases

eggNOGiCOG5144.
HOGENOMiHOG000170529.
HOVERGENiHBG054205.
InParanoidiQ92759.
KOiK03144.
OMAiPHAQLWE.
PhylomeDBiQ92759.
TreeFamiTF300879.

Family and domain databases

InterProiIPR004598. TFIIH_p52/Tfb2.
[Graphical view]
PANTHERiPTHR13152. PTHR13152. 1 hit.
PfamiPF03849. Tfb2. 1 hit.
[Graphical view]
TIGRFAMsiTIGR00625. tfb2. 1 hit.

Sequencei

Sequence statusi: Complete.

Q92759-1 [UniParc]FASTAAdd to Basket

« Hide

MESTPSRGLN RVHLQCRNLQ EFLGGLSPGV LDRLYGHPAT CLAVFRELPS    50
LAKNWVMRML FLEQPLPQAA VALWVKKEFS KAQEESTGLL SGLRIWHTQL 100
LPGGLQGLIL NPIFRQNLRI ALLGGGKAWS DDTSQLGPDK HARDVPSLDK 150
YAEERWEVVL HFMVGSPSAA VSQDLAQLLS QAGLMKSTEP GEPPCITSAG 200
FQFLLLDTPA QLWYFMLQYL QTAQSRGMDL VEILSFLFQL SFSTLGKDYS 250
VEGMSDSLLN FLQHLREFGL VFQRKRKSRR YYPTRLAINL SSGVSGAGGT 300
VHQPGFIVVE TNYRLYAYTE SELQIALIAL FSEMLYRFPN MVVAQVTRES 350
VQQAIASGIT AQQIIHFLRT RAHPVMLKQT PVLPPTITDQ IRLWELERDR 400
LRFTEGVLYN QFLSQVDFEL LLAHARELGV LVFENSAKRL MVVTPAGHSD 450
VKRFWKRQKH SS 462
Length:462
Mass (Da):52,186
Last modified:February 1, 1997 - v1
Checksum:i5532DAD617CA743C
GO

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti337 – 3371R → Q.1 Publication
Corresponds to variant rs3218820 [ dbSNP | Ensembl ].
VAR_019056

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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.
AL773541 Genomic DNA. Translation: CAI18452.1.
CR759747 Genomic DNA. Translation: CAQ06761.1.
BX927194 Genomic DNA. Translation: CAQ09772.1.
CR936875 Genomic DNA. Translation: CAQ10923.1.
CH471081 Genomic DNA. Translation: EAX03347.1.
BC004935 mRNA. Translation: AAH04935.1.
BC016302 mRNA. Translation: AAH16302.1.
CCDSiCCDS34386.1.
RefSeqiNP_001508.1. NM_001517.4.
UniGeneiHs.485070.

Genome annotation databases

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

Polymorphism databases

DMDMi17380328.

Keywords - Coding sequence diversityi

Polymorphism

Cross-referencesi

Web resourcesi

NIEHS-SNPs

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
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 .
AL773541 Genomic DNA. Translation: CAI18452.1 .
CR759747 Genomic DNA. Translation: CAQ06761.1 .
BX927194 Genomic DNA. Translation: CAQ09772.1 .
CR936875 Genomic DNA. Translation: CAQ10923.1 .
CH471081 Genomic DNA. Translation: EAX03347.1 .
BC004935 mRNA. Translation: AAH04935.1 .
BC016302 mRNA. Translation: AAH16302.1 .
CCDSi CCDS34386.1.
RefSeqi NP_001508.1. NM_001517.4.
UniGenei Hs.485070.

3D structure databases

ProteinModelPortali Q92759.
SMRi Q92759. Positions 382-457.
ModBasei Search...

Protein-protein interaction databases

BioGridi 109223. 21 interactions.
DIPi DIP-48376N.
IntActi Q92759. 1 interaction.
MINTi MINT-3049325.
STRINGi 9606.ENSP00000259895.

PTM databases

PhosphoSitei Q92759.

Polymorphism databases

DMDMi 17380328.

Proteomic databases

MaxQBi Q92759.
PaxDbi Q92759.
PRIDEi Q92759.

Protocols and materials databases

DNASUi 2968.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000259895 ; ENSP00000259895 ; ENSG00000213780 .
ENST00000376316 ; ENSP00000365493 ; ENSG00000213780 .
ENST00000376326 ; ENSP00000365504 ; ENSG00000221974 .
ENST00000400450 ; ENSP00000383300 ; ENSG00000221974 .
ENST00000413314 ; ENSP00000396251 ; ENSG00000236895 .
ENST00000416773 ; ENSP00000399554 ; ENSG00000234370 .
ENST00000423881 ; ENSP00000409483 ; ENSG00000236895 .
ENST00000434226 ; ENSP00000403156 ; ENSG00000234370 .
ENST00000435498 ; ENSP00000388227 ; ENSG00000233149 .
ENST00000438348 ; ENSP00000387980 ; ENSG00000226384 .
ENST00000440824 ; ENSP00000401105 ; ENSG00000226384 .
ENST00000456968 ; ENSP00000395497 ; ENSG00000233149 .
GeneIDi 2968.
KEGGi hsa:2968.
UCSCi uc003nsa.1. human.

Organism-specific databases

CTDi 2968.
GeneCardsi GC06P030875.
GC06Pj30866.
GC06Pk30867.
GC06Pl30921.
GC06Pm30955.
GC06Pn30866.
HGNCi HGNC:4658. GTF2H4.
MIMi 601760. gene.
neXtProti NX_Q92759.
PharmGKBi PA29044.
GenAtlasi Search...

Phylogenomic databases

eggNOGi COG5144.
HOGENOMi HOG000170529.
HOVERGENi HBG054205.
InParanoidi Q92759.
KOi K03144.
OMAi PHAQLWE.
PhylomeDBi Q92759.
TreeFami TF300879.

Enzyme and pathway databases

Reactomei REACT_1074. RNA Polymerase I Transcription Termination.
REACT_1470. mRNA Capping.
REACT_1655. RNA Polymerase II Transcription Pre-Initiation And Promoter Opening.
REACT_1851. RNA Polymerase II Transcription Initiation.
REACT_1913. RNA Polymerase I Promoter Escape.
REACT_1941. Formation of transcription-coupled NER (TC-NER) repair complex.
REACT_200856. NoRC negatively regulates rRNA expression.
REACT_2089. RNA Polymerase II Promoter Escape.
REACT_2204. RNA Polymerase I Chain Elongation.
REACT_22107. RNA Polymerase II Pre-transcription Events.
REACT_22201. Formation of HIV elongation complex in the absence of HIV Tat.
REACT_2222. Dual incision reaction in TC-NER.
REACT_257. Formation of incision complex in GG-NER.
REACT_311. Dual incision reaction in GG-NER.
REACT_6162. Tat-mediated elongation of the HIV-1 transcript.
REACT_6233. Transcription of the HIV genome.
REACT_6237. RNA Pol II CTD phosphorylation and interaction with CE.
REACT_6253. RNA Polymerase II HIV Promoter Escape.
REACT_6319. Formation of the HIV-1 Early Elongation Complex.
REACT_6332. HIV Transcription Initiation.
REACT_6346. Formation of HIV-1 elongation complex containing HIV-1 Tat.
REACT_833. RNA Polymerase II Transcription Elongation.
REACT_834. RNA Polymerase II Transcription Initiation And Promoter Clearance.
REACT_846. Formation of the Early Elongation Complex.
REACT_953. RNA Polymerase I Transcription Initiation.
REACT_975. RNA Pol II CTD phosphorylation and interaction with CE.

Miscellaneous databases

GeneWikii GTF2H4.
GenomeRNAii 2968.
NextBioi 11764.
PROi Q92759.
SOURCEi Search...

Gene expression databases

Bgeei Q92759.
CleanExi HS_GTF2H4.
Genevestigatori Q92759.

Family and domain databases

InterProi IPR004598. TFIIH_p52/Tfb2.
[Graphical view ]
PANTHERi PTHR13152. PTHR13152. 1 hit.
Pfami PF03849. Tfb2. 1 hit.
[Graphical view ]
TIGRFAMsi TIGR00625. tfb2. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH."
    Marinoni J.-C., Roy R., Vermeulen W., Miniou P., Lutz Y., Weeda G., Seroz T., Molina Gomez D., Hoeijmakers J.H.J., Egly J.-M.
    EMBO J. 16:1093-1102(1997) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    Tissue: Pre-B cell.
  2. "Homo sapiens 2,229,817bp genomic DNA of 6p21.3 HLA class I region."
    Shiina S., Tamiya G., Oka A., Inoko H.
    Submitted (SEP-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "Cloning of human full-length CDSs in BD Creator(TM) system donor vector."
    Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S., Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y., Phelan M., Farmer A.
    Submitted (MAY-2003) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
  4. NIEHS SNPs program
    Submitted (JUN-2002) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT GLN-337.
  5. "Rapid evolution of major histocompatibility complex class I genes in primates generates new disease alleles in humans via hitchhiking diversity."
    Shiina T., Ota M., Shimizu S., Katsuyama Y., Hashimoto N., Takasu M., Anzai T., Kulski J.K., Kikkawa E., Naruse T., Kimura N., Yanagiya K., Watanabe A., Hosomichi K., Kohara S., Iwamoto C., Umehara Y., Meyer A.
    , Wanner V., Sano K., Macquin C., Ikeo K., Tokunaga K., Gojobori T., Inoko H., Bahram S.
    Genetics 173:1555-1570(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    Tissue: Peripheral blood leukocyte.
  6. "The DNA sequence and analysis of human chromosome 6."
    Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
    , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
    Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  7. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  8. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Skin and Uterus.
  9. "Immunoaffinity purification and functional characterization of human transcription factor IIH and RNA polymerase II from clonal cell lines that conditionally express epitope-tagged subunits of the multiprotein complexes."
    Kershnar E., Wu S.-Y., Chiang C.-M.
    J. Biol. Chem. 273:34444-34453(1998) [PubMed] [Europe PMC] [Abstract]
    Cited for: IDENTIFICATION IN THE TFIIH BASAL TRANSCRIPTION FACTOR.

Entry informationi

Entry nameiTF2H4_HUMAN
AccessioniPrimary (citable) accession number: Q92759
Secondary accession number(s): Q76KU4
Entry historyi
Integrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: February 1, 1997
Last modified: September 3, 2014
This is version 130 of the entry and version 1 of the sequence. [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

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. 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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

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