From Wikipedia, the free encyclopedia
Protein-coding gene in the species Homo sapiens
GTF2H2
Identifiers
Aliases
GTF2H2 , BTF2, BTF2P44, T-BTF2P44, TFIIH, p44, general transcription factor IIH subunit 2External IDs
OMIM :
601748
MGI :
1345669
HomoloGene :
1159
GeneCards :
GTF2H2
Gene ontology Molecular function Cellular component Biological process
termination of RNA polymerase I transcription
G protein-coupled receptor internalization
regulation of transcription, DNA-templated
transcription initiation from RNA polymerase I promoter
transcription elongation from RNA polymerase II promoter
7-methylguanosine mRNA capping
transcription by RNA polymerase II
transcription, DNA-templated
cellular response to DNA damage stimulus
global genome nucleotide-excision repair
transcription-coupled nucleotide-excision repair
transcription initiation from RNA polymerase II promoter
nucleotide-excision repair, DNA incision
response to UV
nucleotide-excision repair, preincision complex assembly
DNA repair
protein biosynthesis
nucleotide-excision repair, DNA incision, 5'-to lesion
nucleotide-excision repair, preincision complex stabilization
protein phosphorylation
nucleotide-excision repair
regulation of transcription by RNA polymerase II
positive regulation of DNA helicase activity
nucleotide-excision repair, DNA duplex unwinding
nucleotide-excision repair, DNA incision, 3'-to lesion
transcription elongation from RNA polymerase I promoter
Sources:
Amigo /
QuickGO
Wikidata
General transcription factor IIH subunit 2 is a
protein that in humans is encoded by the GTF2H2
gene .
[5]
[6]
Function
This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is within the telomeric copy of the duplication. Deletion of this gene sometimes accompanies deletion of the neighboring SMN1 gene in spinal muscular atrophy (SMA) patients but it is unclear if deletion of this gene contributes to the SMA phenotype. This gene encodes the 44 kDa subunit of RNA polymerase II transcription initiation factor IIH which is involved in basal transcription and nucleotide excision repair. Transcript variants for this gene have been described, but their full length nature has not been determined. A second copy of this gene within the centromeric copy of the duplication has been described in the literature. It is reported to be different by either two or four base pairs; however, no sequence data is currently available for the centromeric copy of the gene.
[6]
Interactions
GTF2H2 has been shown to
interact with
GTF2H5 ,
[7]
[8]
XPB
[7]
[9] and
ERCC2 .
[8]
[10]
See also
References
^
a
b
c
ENSG00000276910, ENSG00000275045 GRCh38: Ensembl release 89: ENSG00000145736, ENSG00000276910, ENSG00000275045 –
Ensembl , May 2017
^
a
b
c
GRCm38: Ensembl release 89: ENSMUSG00000021639 –
Ensembl , May 2017
^
"Human PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^
"Mouse PubMed Reference:" . National Center for Biotechnology Information, U.S. National Library of Medicine .
^ Humbert S, van Vuuren H, Lutz Y, Hoeijmakers JH, Egly JM, Moncollin V (June 1994).
"p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNA repair" . EMBO J . 13 (10): 2393–8.
doi :
10.1002/j.1460-2075.1994.tb06523.x .
PMC
395104 .
PMID
8194529 .
^
a
b
"Entrez Gene: GTF2H2 general transcription factor IIH, polypeptide 2, 44kDa" .
^
a
b Giglia-Mari G, Coin F, Ranish JA, Hoogstraten D, Theil A, Wijgers N, Jaspers NG, Raams A, Argentini M, van der Spek PJ, Botta E, Stefanini M, Egly JM, Aebersold R, Hoeijmakers JH, Vermeulen W (July 2004).
"A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A" . Nat. Genet . 36 (7): 714–9.
doi :
10.1038/ng1387 .
PMID
15220921 .
^
a
b Vermeulen W, Bergmann E, Auriol J, Rademakers S, Frit P, Appeldoorn E, Hoeijmakers JH, Egly JM (November 2000). "Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder". Nat. Genet . 26 (3): 307–13.
doi :
10.1038/81603 .
PMID
11062469 .
S2CID
25233797 .
^ Marinoni JC, Roy R, Vermeulen W, Miniou P, Lutz Y, Weeda G, Seroz T, Gomez DM, Hoeijmakers JH, Egly JM (March 1997).
"Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH" . EMBO J . 16 (5): 1093–102.
doi :
10.1093/emboj/16.5.1093 .
PMC
1169708 .
PMID
9118947 .
^ Coin F, Marinoni JC, Rodolfo C, Fribourg S, Pedrini AM, Egly JM (October 1998). "Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH". Nat. Genet . 20 (2): 184–8.
doi :
10.1038/2491 .
PMID
9771713 .
S2CID
28250605 .
Further reading
Svejstrup JQ, Vichi P, Egly JM (1996). "The multiple roles of transcription/repair factor TFIIH". Trends Biochem. Sci . 21 (9): 346–50.
doi :
10.1016/s0968-0004(96)10046-3 .
PMID
8870499 .
Jeang KT (1998). "Tat, Tat-associated kinase, and transcription". J. Biomed. Sci . 5 (1): 24–7.
doi :
10.1007/BF02253352 .
PMID
9570510 .
Yankulov K, Bentley D (1998).
"Transcriptional control: Tat cofactors and transcriptional elongation" . Curr. Biol . 8 (13): R447-9.
Bibcode :
1998CBio....8.R447Y .
doi :
10.1016/S0960-9822(98)70289-1 .
PMID
9651670 .
S2CID
15480646 .
van der Steege G, Draaijers TG, Grootscholten PM, Osinga J, Anzevino R, Velonà I, Den Dunnen JT, Scheffer H, Brahe C, van Ommen GJ (1995). "A provisional transcript map of the spinal muscular atrophy (SMA) critical region". Eur. J. Hum. Genet . 3 (2): 87–95.
doi :
10.1159/000472281 .
PMID
7552146 .
S2CID
46083524 .
Henning KA, Li L, Iyer N, McDaniel LD, Reagan MS, Legerski R, Schultz RA, Stefanini M, Lehmann AR, Mayne LV, Friedberg EC (1995).
"The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH" . Cell . 82 (4): 555–64.
doi :
10.1016/0092-8674(95)90028-4 .
PMID
7664335 .
S2CID
16109644 .
Blau J, Xiao H, McCracken S, O'Hare P, Greenblatt J, Bentley D (1996).
"Three functional classes of transcriptional activation domain" . Mol. Cell. Biol . 16 (5): 2044–55.
doi :
10.1128/MCB.16.5.2044 .
PMC
231191 .
PMID
8628270 .
Iyer N, Reagan MS, Wu KJ, Canagarajah B, Friedberg EC (1996). "Interactions involving the human RNA polymerase II transcription/nucleotide excision repair complex TFIIH, the nucleotide excision repair protein XPG, and Cockayne syndrome group B (CSB) protein". Biochemistry . 35 (7): 2157–67.
doi :
10.1021/bi9524124 .
PMID
8652557 .
Reardon JT, Ge H, Gibbs E, Sancar A, Hurwitz J, Pan ZQ (1996).
"Isolation and characterization of two human transcription factor IIH (TFIIH)-related complexes: ERCC2/CAK and TFIIH" . Proc. Natl. Acad. Sci. U.S.A . 93 (13): 6482–7.
Bibcode :
1996PNAS...93.6482R .
doi :
10.1073/pnas.93.13.6482 .
PMC
39049 .
PMID
8692841 .
Drapkin R, Le Roy G, Cho H, Akoulitchev S, Reinberg D (1996).
"Human cyclin-dependent kinase-activating kinase exists in three distinct complexes" . Proc. Natl. Acad. Sci. U.S.A . 93 (13): 6488–93.
Bibcode :
1996PNAS...93.6488D .
doi :
10.1073/pnas.93.13.6488 .
PMC
39050 .
PMID
8692842 .
Zhou Q, Sharp PA (1996). "Tat-SF1: cofactor for stimulation of transcriptional elongation by HIV-1 Tat". Science . 274 (5287): 605–10.
Bibcode :
1996Sci...274..605Z .
doi :
10.1126/science.274.5287.605 .
PMID
8849451 .
S2CID
13266489 .
Parada CA, Roeder RG (1996). "Enhanced processivity of RNA polymerase II triggered by Tat-induced phosphorylation of its carboxy-terminal domain". Nature . 384 (6607): 375–8.
Bibcode :
1996Natur.384..375P .
doi :
10.1038/384375a0 .
PMID
8934526 .
S2CID
4278432 .
Bürglen L, Seroz T, Miniou P, Lefebvre S, Burlet P, Munnich A, Pequignot EV, Egly JM, Melki J (1997).
"The gene encoding p44, a subunit of the transcription factor TFIIH, is involved in large-scale deletions associated with Werdnig-Hoffmann disease" . Am. J. Hum. Genet . 60 (1): 72–9.
PMC
1712562 .
PMID
8981949 .
García-Martínez LF, Ivanov D,
Gaynor RB (1997).
"Association of Tat with purified HIV-1 and HIV-2 transcription preinitiation complexes" . J. Biol. Chem . 272 (11): 6951–8.
doi :
10.1074/jbc.272.11.6951 .
PMID
9054383 .
Carter TA, Bönnemann CG, Wang CH, Obici S, Parano E, De Fatima Bonaldo M, Ross BM, Penchaszadeh GK, Mackenzie A, Soares MB, Kunkel LM, Gilliam TC (1997).
"A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions" . Hum. Mol. Genet . 6 (2): 229–36.
doi :
10.1093/hmg/6.2.229 .
PMID
9063743 .
Marinoni JC, Roy R, Vermeulen W, Miniou P, Lutz Y, Weeda G, Seroz T, Gomez DM, Hoeijmakers JH, Egly JM (1997).
"Cloning and characterization of p52, the fifth subunit of the core of the transcription/DNA repair factor TFIIH" . EMBO J . 16 (5): 1093–102.
doi :
10.1093/emboj/16.5.1093 .
PMC
1169708 .
PMID
9118947 .
Cujec TP, Cho H, Maldonado E, Meyer J, Reinberg D, Peterlin BM (1997).
"The human immunodeficiency virus transactivator Tat interacts with the RNA polymerase II holoenzyme" . Mol. Cell. Biol . 17 (4): 1817–23.
doi :
10.1128/mcb.17.4.1817 .
PMC
232028 .
PMID
9121429 .
Rossignol M, Kolb-Cheynel I, Egly JM (1997).
"Substrate specificity of the cdk-activating kinase (CAK) is altered upon association with TFIIH" . EMBO J . 16 (7): 1628–37.
doi :
10.1093/emboj/16.7.1628 .
PMC
1169767 .
PMID
9130708 .
García-Martínez LF, Mavankal G, Neveu JM, Lane WS, Ivanov D, Gaynor RB (1997).
"Purification of a Tat-associated kinase reveals a TFIIH complex that modulates HIV-1 transcription" . EMBO J . 16 (10): 2836–50.
doi :
10.1093/emboj/16.10.2836 .
PMC
1169892 .
PMID
9184228 .
External links
Overview of all the structural information available in the
PDB for
UniProt :
Q13888 (General transcription factor IIH subunit 2) at the
PDBe-KB .
(1) Basic domains
(1.1) Basic
leucine zipper (
bZIP )(1.2) Basic helix-loop-helix (
bHLH )
Group A Group B Group C bHLH-
PAS Group D Group E Group F bHLH-COE
(1.3)
bHLH-ZIP (1.4) NF-1 (1.5) RF-X (1.6) Basic helix-span-helix (bHSH)
(2)
Zinc finger DNA-binding domains
(2.1)
Nuclear receptor (Cys4 )
subfamily 1 subfamily 2 subfamily 3 subfamily 4 subfamily 5 subfamily 6 subfamily 0
(2.2) Other Cys4 (2.3) Cys2 His2 (2.4) Cys6 (2.5) Alternating composition (2.6) WRKY
(4) β-Scaffold factors with minor groove contacts
(0) Other transcription factors
This article incorporates text from the
United States National Library of Medicine , which is in the
public domain .