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Homo sapiens general transcription factor IIH, polypeptide 5 (GTF2H5), mRNA.


RefSeq Accession Definition Service Stock Status Price *Turnaround time Order
NM_207118 Homo sapiens general transcription factor IIH, polypeptide 5 (GTF2H5), mRNA. GenEZ ORF Cloning In-stock $248.00 $199.00 10

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RefSeq Version NM_207118.2, 224922844
Length 7503 bp
Structure linear
Update Date 17-APR-2013
Organism Homo sapiens (human)
Definition Homo sapiens general transcription factor IIH, polypeptide 5 (GTF2H5), mRNA.
Product general transcription factor IIH subunit 5
Comment

Summary: This gene encodes a subunit of transcription/repair factor TFIIH, which functions in gene transcription and DNA repair. This protein stimulates ERCC3/XPB ATPase activity to trigger DNA opening during DNA repair, and is implicated in regulating cellular levels of TFIIH. Mutations in this gene result in trichothiodystrophy, complementation group A. [provided by RefSeq, Mar 2009].


Sequence Note: This RefSeq record was created from transcript and genomic sequence data to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on transcript alignments.


##Evidence-Data-START## Transcript exon combination :: CN403888.1, AK055106.1 [ECO:0000332] RNAseq introns :: single sample supports all introns ERS025081, ERS025082 [ECO:0000348] ##Evidence-Data-END## COMPLETENESS: complete on the 3' end.

RefSeq NP_997001.1
CDS 84..299
Misc Feature(1)75..77
Misc Feature(2)75..77
Misc Feature(3)84..293
Misc Feature(4)84..293
Misc Feature(5)288..290
Misc Feature(6)288..290
Exon (1)1..49
Gene:GTF2H5
Gene Synonym:bA120J8.2; C6orf175; TFB5; TFIIH; TGF2H5; TTD; TTD-A; TTDA
Exon (2)50..118
Gene:GTF2H5
Gene Synonym:bA120J8.2; C6orf175; TFB5; TFIIH; TGF2H5; TTD; TTD-A; TTDA
Exon (3)119..7486
Gene:GTF2H5
Gene Synonym:bA120J8.2; C6orf175; TFB5; TFIIH; TGF2H5; TTD; TTD-A; TTDA
Translation MVNVLKGVLIECDPAMKQFLLYLDESNALGKKFIIQDIDDTHVFVIAELVNVLQERVGEL MDQNAFSLTQK
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Position Chain Variation Link
19+dbSNP:
19+c, tdbSNP:186852334
47+c, gdbSNP:3812102
116+a, gdbSNP:142825820
145+dbSNP:
145+c, tdbSNP:121434365
187+c, tdbSNP:201926134
200+c, tdbSNP:200949665
210+a, gdbSNP:114381286
218+a, gdbSNP:115779583
219+a, gdbSNP:146093050
222+a, gdbSNP:139277280
224+a, gdbSNP:199635378
249+c, tdbSNP:121434364
250+a, gdbSNP:181096841
268+a, tdbSNP:11545281
284+c, tdbSNP:144106337
289+c, tdbSNP:144130001
313+a, gdbSNP:201779954
392+a, tdbSNP:4397255
410+a, gdbSNP:139632531
448+a, cdbSNP:79076913
485+, tdbSNP:3841147
570+, tdbSNP:34355305
639+c, gdbSNP:147405902
640+c, tdbSNP:139663532
669+a, gdbSNP:111902038
713+a, cdbSNP:4425618
742+c, gdbSNP:185453197
775+c, tdbSNP:145493528
826+g, tdbSNP:190258294
893+a, gdbSNP:114283221
965+a, gdbSNP:144279837
1020+a, gdbSNP:9457163
1048..1049+, a, aadbSNP:10625768
1090+c, tdbSNP:148725344
1109+c, tdbSNP:142282567
1283..1284+, tgdbSNP:138803199
1292..1293+, adbSNP:34979024
1334..1335+, atggcttaagcccaggaggdbSNP:151336745
1346..1347+, aggaggatggcttaagcccdbSNP:6149883
1347..1348+, aggaggatggcttaagcccdbSNP:33953121
1352..1353+, atggcttaagcccaggaggdbSNP:60347118
1353..1354+, atggcttaagcccaggaggdbSNP:67939942
1365+c, tdbSNP:182825613
1498+a, gdbSNP:151238307
1500+a, gdbSNP:187464465
1512+a, gdbSNP:12207483
1587+a, tdbSNP:140609814
1635+a, gdbSNP:117218365
1638+a, gdbSNP:35508045
1822+a, gdbSNP:112463023
1905+a, gdbSNP:192160342
1932+c, tdbSNP:183957959
2103+c, gdbSNP:146620040
2151..2152+, a, aadbSNP:34665520
2152..2153+, a, aadbSNP:67961485
2244+a, cdbSNP:57987549
2329+a, gdbSNP:187726673
2392+a, gdbSNP:141343872
2407+a, cdbSNP:145383091
2431+c, tdbSNP:116538080
2839+c, gdbSNP:192341195
3036+a, tdbSNP:1019682
3066..3069+, tcttdbSNP:142592947
3097+c, tdbSNP:111591298
3174+a, gdbSNP:149050245
3187+a, gdbSNP:184676212
3211+a, gdbSNP:12529100
3212+c, tdbSNP:79287750
3283..3284+, tdbSNP:11384848
3284..3285+, tdbSNP:72413565
3284+, ttdbSNP:74377352
3301+a, tdbSNP:62437117
3386..3387+, adbSNP:141473091
3441+c, tdbSNP:143033146
3445+a, cdbSNP:10946159
3491+, gdbSNP:200816056
3569+g, tdbSNP:76223157
3596+c, tdbSNP:113760007
3733+a, cdbSNP:148181533
3802+c, tdbSNP:111336600
3837+c, tdbSNP:1047876
3857+c, tdbSNP:116081980
3923+a, gdbSNP:142944969
3947+a, tdbSNP:187127951
3986+a, cdbSNP:4354181
4104+c, tdbSNP:200589356
4148+a, gdbSNP:138146620
4166+a, gdbSNP:143608085
4260+a, gdbSNP:191893437
4285+a, gdbSNP:150554234
4319+a, gdbSNP:56693427
4378+c, tdbSNP:184452268
4398+a, gdbSNP:189158643
4411+a, gdbSNP:193213215
4419+a, cdbSNP:78784407
4524+a, gdbSNP:115613510
4656+a, gdbSNP:113671169
4682+c, tdbSNP:628039
4770..4771+, cdbSNP:34957535
4804+a, tdbSNP:144679213
4959+c, tdbSNP:115244897
5091+, tdbSNP:201786337
5439+a, gdbSNP:185564909
5492+c, tdbSNP:190819724
5698+c, tdbSNP:6456077
5713+a, tdbSNP:4441970
5774+g, tdbSNP:114098318
5785+c, tdbSNP:2885903
5823+a, gdbSNP:115391510
5828+c, tdbSNP:200980516
5847+a, gdbSNP:144549481
5869+c, gdbSNP:180820248
5971+c, tdbSNP:185199534
5982+c, tdbSNP:200536542
6149+g, tdbSNP:1570219
6174+a, gdbSNP:28489930
6263+a, gdbSNP:188452362
6326+a, gdbSNP:181260003
6387+a, cdbSNP:146631029
6398+c, tdbSNP:141364510
6492+a, gdbSNP:185719792
6519+c, tdbSNP:599345
6538+, tdbSNP:139277614
6589+a, tdbSNP:111366141
6679+a, gdbSNP:191631462
6744+c, tdbSNP:183881822
6781+c, tdbSNP:6936654
6823+c, gdbSNP:615107
6840+a, gdbSNP:140779556
6986+c, tdbSNP:150113670
7054+c, tdbSNP:138412951
7058+c, gdbSNP:71563797
7175+a, tdbSNP:115534740
7355+a, gdbSNP:62437118
7395+a, gdbSNP:1128568
7411+a, cdbSNP:141109905
7445+c, gdbSNP:1128569
7446+a, cdbSNP:147018205
Gene SymbolGTF2H5
Gene SynonymbA120J8.2; C6orf175; TFB5; TFIIH; TGF2H5; TTD; TTD-A; TTDA
Chromosome6
Locus Map6q25.3
All Transcripts
RefSeq Accession Definition Stock Status Price Turnaround time Business Day Select
NM_207118 Homo sapiens general transcription factor IIH, polypeptide 5 (GTF2H5), mRNA. In-stock $248.00 $199.00 10
Title Variation within DNA repair pathway genes and risk of multiple sclerosis .
Author Briggs,F.B., Goldstein,B.A., McCauley,J.L., Zuvich,R.L., De Jager,P.L., Rioux,J.D., Ivinson,A.J., Compston,A., Hafler,D.A., Hauser,S.L., Oksenberg,J.R., Sawcer,S.J., Pericak-Vance,M.A., Haines,J.L. and Barcellos,L.F.
Journal Am. J. Epidemiol. 172 (2), 217-224 (2010)
Title Comprehensive analysis of DNA repair gene variants and risk of meningioma .
Author Bethke,L., Murray,A., Webb,E., Schoemaker,M., Muir,K., McKinney,P., Hepworth,S., Dimitropoulou,P., Lophatananon,A., Feychting,M., Lonn,S., Ahlbom,A., Malmer,B., Henriksson,R., Auvinen,A., Kiuru,A., Salminen,T., Johansen,C., Christensen,H.C., Kosteljanetz,M., Swerdlow,A. and Houlston,R.
Journal J. Natl. Cancer Inst. 100 (4), 270-276 (2008)
Title Solution structure and self-association properties of the p8 TFIIH subunit responsible for trichothiodystrophy .
Author Vitorino,M., Coin,F., Zlobinskaya,O., Atkinson,R.A., Moras,D., Egly,J.M., Poterszman,A. and Kieffer,B.
Journal J. Mol. Biol. 368 (2), 473-480 (2007)
Title Dynamic interaction of TTDA with TFIIH is stabilized by nucleotide excision repair in living cells .
Author Giglia-Mari,G., Miquel,C., Theil,A.F., Mari,P.O., Hoogstraten,D., Ng,J.M., Dinant,C., Hoeijmakers,J.H. and Vermeulen,W.
Journal PLoS Biol. 4 (6), E156 (2006)
Title p8/TTD-A as a repair-specific TFIIH subunit .
Author Coin,F., Proietti De Santis,L., Nardo,T., Zlobinskaya,O., Stefanini,M. and Egly,J.M.
Journal Mol. Cell 21 (2), 215-226 (2006)
Title A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A .
Author Giglia-Mari,G., Coin,F., Ranish,J.A., Hoogstraten,D., Theil,A., Wijgers,N., Jaspers,N.G., Raams,A., Argentini,M., van der Spek,P.J., Botta,E., Stefanini,M., Egly,J.M., Aebersold,R., Hoeijmakers,J.H. and Vermeulen,W.
Journal Nat. Genet. 36 (7), 714-719 (2004)
Title The DNA sequence and analysis of human chromosome 6 .
Author 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., Clamp,M.E., Bethel,G., Milne,S., Ainscough,R., Almeida,J.P., Ambrose,K.D., Andrews,T.D., Ashwell,R.I., 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., 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., 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., 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., 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., Hubbard,T., Sulston,J.E., Dunham,I., Rogers,J. and Beck,S.
Journal Nature 425 (6960), 805-811 (2003)
Title Molecular evolution of the second ancient human mariner transposon, Hsmar2, illustrates patterns of neutral evolution in the human genome lineage .
Author Robertson,H.M. and Martos,R.
Journal Gene 205 (1-2), 219-228 (1997)


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