Q92759 (TF2H4_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:

GTF2H4

Organism

Homo sapiens (Human)

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo

Protein attributes

Sequence length	462 AA.
Sequence status	Complete.
Protein existence	Evidence 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.
Subcellular location	Nucleus.
Sequence similarities	Belongs to the TFB2 family.

Ontologies

Keywords
Biological process	DNA damage DNA repair Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological process	mRNA capping 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.6. 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 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 reproduction Traceable author statement. Source: Reactome
Cellular component	holo TFIIH complex Inferred from direct assay Ref.6. Source: UniProtKB
Molecular function	protein binding Inferred from physical interaction. Source: UniProtKB sequence-specific DNA binding transcription factor activity Traceable author statement. Source: ProtInc
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 462	462	General transcription factor IIH subunit 4		PRO_0000119253
Natural variations
	Natural variant	337	1	R → Q. Ref.4 Corresponds to variant rs3218820 [ dbSNP | Ensembl ].		VAR_019056

Sequences

	Sequence		Length	Mass (Da)
	Q92759 [UniParc]. Last modified February 1, 1997. Version 1. Checksum: 5532DAD617CA743C	FASTA	462	52,186
	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

References

	« Hide 'large scale' referencesShow '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: 9118947] [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]	"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: 15489334] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Skin and Uterus.
[6]	"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: 9852112] [Abstract] Cited for: IDENTIFICATION IN THE TFIIH BASAL TRANSCRIPTION FACTOR.
+	Additional computationally mapped references.

Web resources

NIEHS-SNPs

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. BC004935 mRNA. Translation: AAH04935.1. BC016302 mRNA. Translation: AAH16302.1.
IPI	IPI00016839.
RefSeq	NP_001508.1. NM_001517.4.
UniGene	Hs.485070.
3D structure databases
ProteinModelPortal	Q92759.
SMR	Q92759. Positions 381-457.
ModBase	Search...
Protein-protein interaction databases
DIP	DIP-48376N.
STRING	Q92759.
PTM databases
PhosphoSite	Q92759.
Polymorphism databases
DMDM	17380328.
Proteomic databases
PRIDE	Q92759.
Protocols and materials databases
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	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.
GeneID	2968.
KEGG	hsa:2968.
UCSC	uc003nsa.1. human.
Organism-specific databases
CTD	2968.
GeneCards	GC06P030875.
HGNC	HGNC:4658. GTF2H4.
MIM	601760. gene.
neXtProt	NX_Q92759.
GenAtlas	Search...
Phylogenomic databases
GeneTree	ENSGT00390000014159.
HOGENOM	HBG318428.
HOVERGEN	HBG054205.
InParanoid	Q92759.
OMA	TVVDQIK.
OrthoDB	EOG4F1X34.
PhylomeDB	Q92759.
Enzyme and pathway databases
Reactome	REACT_1675. mRNA Processing. REACT_1788. Transcription. REACT_216. DNA Repair. REACT_6185. HIV Infection. REACT_71. Gene Expression.
Gene expression databases
CleanEx	HS_GTF2H4.
Genevestigator	Q92759.
GermOnline	ENSG00000137411. Homo sapiens.
Family and domain databases
InterPro	IPR004598. Tfb2. [Graphical view]
KO	K03144.
PANTHER	PTHR13152. Tfb2. 1 hit.
Pfam	PF03849. Tfb2. 1 hit. [Graphical view]
TIGRFAMs	TIGR00625. Tfb2. 1 hit.
ProtoNet	Search...
Other
NextBio	11764.
SOURCE	Search...

Entry information

Entry name

TF2H4_HUMAN

Accession

Primary (citable) accession number: Q92759

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 18, 2001
Last sequence update:	February 1, 1997
Last modified:	January 25, 2012
This is version 103 of the entry and version 1 of the sequence. [Complete history]

Entry status

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.