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GTF2H2

Protein FULL name:

General transcription factor IIH subunit 2, General transcription factor IIH polypeptide 2, TFIIH basal transcription factor complex p44 subunit, Basic transcription factor 2 44 kDa subunit,


Protein SHORT name:

BTF2 p44.


GTF2H2 (Homo sapiens) is product of expression of GTF2H2 gene.


GTF2H2 is involved in:

NER in Homo sapiens
     


Keywords:



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. The N-terminus interacts with and regulates XPD whereas an intact C- terminus is required for a successful escape of RNAP II form the promoter.

SUBUNIT: 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. Interacts with XPB, XPD, GTF2H1 and GTF2H3. Interacts with varicella-zoster virus IE63 protein.

INTERACTION: Q13216-1:ERCC8; NbExp=1; IntAct=EBI-1565170, EBI-596556;

SUBCELLULAR LOCATION: Nucleus.

TISSUE SPECIFICITY: Widely expressed, with higher expression in skeletal muscle.

SIMILARITY: Belongs to the GTF2H2 family.

SIMILARITY: Contains 1 VWFA domain.


This protein can be a part of a given complexes:
NCBI GenPept GI number(s): 17380326
6681762
Species: Homo sapiens

Links to other databases:

Database ID Link
Uniprot Q13888 Q13888
PFAM: PF07975
PF04056
PF07975
PF04056
InterPro: IPR007198
IPR004595
IPR012170
IPR002035
IPR007087
IPR007198
IPR004595
IPR012170
IPR002035
IPR007087
CATH: - -
SCOP: - -
PDB: - -


Protein sequence:
MDEEPERTKRWEGGYERTWEILKEDESGSLKATIEDILFKAKRKRVFEHH
GQVRLGMMRHLYVVVDGSRTMEDQDLKPNRLTCTLKLLEYFVEEYFDQNP
ISQIGIIVTKSKRAEKLTELSGNPRKHITSLKKAVDMTCHGEPSLYNSLS
IAMQTLKHMPGHTSREVLIIFSSLTTCDPSNIYDLIKTLKAAKIRVSVIG
LSAEVRVCTVLARETGGTYHVILDESHYKELLTHHVSPPPASSSSECSLI
RMGFPQHTIASLSDQDAKPSFSMAHLDGNTEPGLTLGGYFCPQCRAKYCE
LPVECKICGLTLVSAPHLARSYHHLFPLDAFQEIPLEEYNGERFCYGCQG
ELKDQHVYVCAVCQNVFCVDCDVFVHDSLHCCPGCIHKIPAPSGV

GTF2H2 (Homo sapiens) belongs to following protein families:
References:

Title Authors Journal
p44 and p34 subunits of the BTF2/TFIIH transcription factor have homologies with SSL1, a yeast protein involved in DNA repair. Humbert S, van Vuuren H, Lutz Y, Hoeijmakers JH, Egly JM, Moncollin V EMBO J May 15, 1994
A provisional transcript map of the spinal muscular atrophy (SMA) critical region. van der Steege G, Draaijers TG, Grootscholten PM, Osinga J, Anzevino R, Velona I, Den Dunnen JT, Scheffer H, Brahe C, van Ommen GJ, et al. Eur J Hum Genet Jan. 1, 1995
A multicopy transcription-repair gene, BTF2p44, maps to the SMA region and demonstrates SMA associated deletions. Carter TA, Bonnemann CG, Wang CH, Obici S, Parano E, De Fatima Bonaldo M, Ross BM, Penchaszadeh GK, Mackenzie A, Soares MB, Kunkel LM, Gilliam TC Hum Mol Genet Jan. 1, 1997
Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP. Chen Q, Baird SD, Mahadevan M, Besner-Johnston A, Farahani R, Xuan J, Kang X, Lefebvre C, Ikeda JE, Korneluk RG, MacKenzie AE Genomics Jan. 15, 1998
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 SY, Chiang CM J Biol Chem Dec. 18, 1998
A role of the C-terminal part of p44 in the promoter escape activity of transcription factor IIH. Tremeau-Bravard A, Perez C, Egly JM J Biol Chem July 20, 2001
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). Gerhard DS, Wagner L, Feingold EA, Shenmen CM, Grouse LH, Schuler G, Klein SL, Old S, Rasooly R, Good P, Guyer M, Peck AM, Derge JG, Lipman D, Collins FS, Jang W, Sherry S, Feolo M, Misquitta L, Lee E, Rotmistrovsky K, Greenhut SF, Schaefer CF, Buetow K, Bonner TI, Haussler D, Kent J, Kiekhaus M, Furey T, Brent M, Prange C, Schreiber K, Shapiro N, Bhat NK, Hopkins RF, Hsie F, Driscoll T, Soares MB, Casavant TL, Scheetz TE, Brown-stein MJ, Usdin TB, Toshiyuki S, Carninci P, Piao Y, Dudekula DB, Ko MS, Kawakami K, Suzuki Y, Sugano S, Gruber CE, Smith MR, Simmons B, Moore T, Waterman R, Johnson SL, Ruan Y, Wei CL, Mathavan S, Gunaratne PH, Wu J, Garcia AM, Hulyk SW, Fuh E, Yuan Y, Sneed A, Kowis C, Hodgson A, Muzny DM, McPherson J, Gibbs RA, Fahey J, Helton E, Ketteman M, Madan A, Rodrigues S, Sanchez A, Whiting M, Madari A, Young AC, Wetherby KD, Granite SJ, Kwong PN, Brinkley CP, Pearson RL, Bouffard GG, Blakesly RW, Green ED, Dickson MC, Rodriguez AC, Grimwood J, Schmutz J, Myers RM, Butterfield YS, Griffith M, Griffith OL, Krzywinski MI, Liao N, Morin R, Palmquist D, Petrescu AS, Skalska U, Smailus DE, Stott JM, Schnerch A, Schein JE, Jones SJ, Holt RA, Baross A, Marra MA, Clifton S, Makowski KA, Bosak S, Malek J Genome Res Oct. 1, 2004
Varicella-zoster virus IE63 protein represses the basal transcription machinery by disorganizing the pre-initiation complex. Di Valentin E, Bontems S, Habran L, Jolois O, Markine-Goriaynoff N, Vanderplasschen A, Sadzot-Delvaux C, Piette J Biol Chem March 1, 2005


Last modification of this entry: Oct. 19, 2010.

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