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Q92759 (TF2H4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified April 16, 2014. Version 126. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:GTF2H4
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length462 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subunit structure

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. Ref.9

Subcellular location

Nucleus.

Sequence similarities

Belongs to the TFB2 family.

Ontologies

Keywords
   Biological processDNA damage
DNA repair
Transcription
Transcription regulation
   Cellular componentNucleus
   Coding sequence diversityPolymorphism
   Technical termComplete proteome
Reference proteome
Gene Ontology (GO)
   Biological_process7-methylguanosine mRNA capping

Traceable author statement. Source: Reactome

ATP catabolic process

Inferred from direct assay Ref.9. Source: GOC

DNA repair

Traceable author statement. Source: Reactome

gene expression

Traceable author statement. Source: Reactome

nucleotide-excision repair

Traceable author statement. Source: Reactome

nucleotide-excision repair, DNA damage removal

Traceable author statement. Source: Reactome

positive regulation of viral transcription

Traceable author statement. Source: Reactome

protein phosphorylation

Inferred from direct assay Ref.9. Source: GOC

termination of RNA polymerase I transcription

Traceable author statement. Source: Reactome

transcription elongation from RNA polymerase I promoter

Traceable author statement. Source: Reactome

transcription elongation from RNA polymerase II promoter

Traceable author statement. Source: Reactome

transcription from RNA polymerase I promoter

Traceable author statement. Source: Reactome

transcription from RNA polymerase II promoter

Inferred from direct assay Ref.9. Source: UniProtKB

transcription initiation from RNA polymerase I promoter

Traceable author statement. Source: Reactome

transcription initiation from RNA polymerase II promoter

Traceable author statement. Source: Reactome

transcription-coupled nucleotide-excision repair

Traceable author statement. Source: Reactome

viral process

Traceable author statement. Source: Reactome

   Cellular_componentcore TFIIH complex

Inferred from electronic annotation. Source: InterPro

holo TFIIH complex

Inferred from direct assay Ref.9. Source: UniProtKB

nucleoplasm

Traceable author statement. Source: Reactome

   Molecular_functionATP-dependent DNA helicase activity

Inferred from electronic annotation. Source: InterPro

sequence-specific DNA binding transcription factor activity

Traceable author statement Ref.1. Source: ProtInc

Complete GO annotation...

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 462462General transcription factor IIH subunit 4
PRO_0000119253

Natural variations

Natural variant3371R → Q. Ref.4
Corresponds to variant rs3218820 [ dbSNP | Ensembl ].
VAR_019056

Sequences

Sequence LengthMass (Da)Tools
Q92759 [UniParc].

Last modified February 1, 1997. Version 1.
Checksum: 5532DAD617CA743C

FASTA46252,186
        10         20         30         40         50         60 
MESTPSRGLN RVHLQCRNLQ EFLGGLSPGV LDRLYGHPAT CLAVFRELPS LAKNWVMRML 

        70         80         90        100        110        120 
FLEQPLPQAA VALWVKKEFS KAQEESTGLL SGLRIWHTQL LPGGLQGLIL NPIFRQNLRI 

       130        140        150        160        170        180 
ALLGGGKAWS DDTSQLGPDK HARDVPSLDK YAEERWEVVL HFMVGSPSAA VSQDLAQLLS 

       190        200        210        220        230        240 
QAGLMKSTEP GEPPCITSAG FQFLLLDTPA QLWYFMLQYL QTAQSRGMDL VEILSFLFQL 

       250        260        270        280        290        300 
SFSTLGKDYS VEGMSDSLLN FLQHLREFGL VFQRKRKSRR YYPTRLAINL SSGVSGAGGT 

       310        320        330        340        350        360 
VHQPGFIVVE TNYRLYAYTE SELQIALIAL FSEMLYRFPN MVVAQVTRES VQQAIASGIT 

       370        380        390        400        410        420 
AQQIIHFLRT RAHPVMLKQT PVLPPTITDQ IRLWELERDR LRFTEGVLYN QFLSQVDFEL 

       430        440        450        460 
LLAHARELGV LVFENSAKRL MVVTPAGHSD VKRFWKRQKH SS 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
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.
+Additional computationally mapped references.

Web resources

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
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.
RefSeqNP_001508.1. NM_001517.4.
UniGeneHs.485070.

3D structure databases

ProteinModelPortalQ92759.
SMRQ92759. Positions 382-457.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid109223. 21 interactions.
DIPDIP-48376N.
IntActQ92759. 1 interaction.
MINTMINT-3049325.
STRING9606.ENSP00000259895.

PTM databases

PhosphoSiteQ92759.

Polymorphism databases

DMDM17380328.

Proteomic databases

PaxDbQ92759.
PRIDEQ92759.

Protocols and materials databases

DNASU2968.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000259895; 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.
GeneID2968.
KEGGhsa:2968.
UCSCuc003nsa.1. human.

Organism-specific databases

CTD2968.
GeneCardsGC06P030875.
GC06Pj30866.
GC06Pk30867.
GC06Pl30921.
GC06Pm30955.
GC06Pn30866.
HGNCHGNC:4658. GTF2H4.
MIM601760. gene.
neXtProtNX_Q92759.
PharmGKBPA29044.
GenAtlasSearch...

Phylogenomic databases

eggNOGCOG5144.
HOGENOMHOG000170529.
HOVERGENHBG054205.
InParanoidQ92759.
KOK03144.
OMAFTFLLQE.
PhylomeDBQ92759.
TreeFamTF300879.

Enzyme and pathway databases

ReactomeREACT_116125. Disease.
REACT_1788. Transcription.
REACT_216. DNA Repair.
REACT_71. Gene Expression.

Gene expression databases

BgeeQ92759.
CleanExHS_GTF2H4.
GenevestigatorQ92759.

Family and domain databases

InterProIPR004598. TFIIH_p52/Tfb2.
[Graphical view]
PANTHERPTHR13152. PTHR13152. 1 hit.
PfamPF03849. Tfb2. 1 hit.
[Graphical view]
TIGRFAMsTIGR00625. tfb2. 1 hit.
ProtoNetSearch...

Other

GeneWikiGTF2H4.
GenomeRNAi2968.
NextBio11764.
PROQ92759.
SOURCESearch...

Entry information

Entry nameTF2H4_HUMAN
AccessionPrimary (citable) accession number: Q92759
Secondary accession number(s): Q76KU4
Entry history
Integrated into UniProtKB/Swiss-Prot: October 18, 2001
Last sequence update: February 1, 1997
Last modified: April 16, 2014
This is version 126 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM