P32780 (TF2H1_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

Recommended name:
General transcription factor IIH subunit 1

Alternative name(s):
Basic transcription factor 2 62 kDa subunit
Short name=BTF2 p62
General transcription factor IIH polypeptide 1
TFIIH basal transcription factor complex p62 subunit

Gene names

Name:	GTF2H1
Synonyms:	BTF2

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	548 AA.
Sequence status	Complete.
Protein existence	Evidence at protein 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. Interacts with PUF60. Ref.8 Ref.9
Subcellular location	Nucleus.
Sequence similarities	Contains 2 BSD domains.

Ontologies

Keywords
Biological process	DNA damage DNA repair Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Domain	Repeat
Technical term	3D-structure Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	7-methylguanosine mRNA capping Traceable author statement. Source: Reactome nucleotide-excision repair, DNA damage removal Traceable author statement. Source: Reactome positive regulation of transcription from RNA polymerase II promoter Inferred from direct assay PubMed 8692841. Source: UniProtKB positive regulation of viral transcription Traceable author statement. Source: Reactome protein phosphorylation Inferred from direct assay Ref.8. Source: GOC regulation of cyclin-dependent protein serine/threonine kinase activity Traceable author statement PubMed 7533895. Source: ProtInc 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	core TFIIH complex Inferred from electronic annotation. Source: InterPro holo TFIIH complex Inferred from direct assay Ref.8. Source: UniProtKB
Complete GO annotation...

Binary interactions

With	Entry	#Exp.	IntAct	Notes
XPC	Q01831	2	EBI-715539,EBI-372610

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Chain

1 – 548

548

General transcription factor IIH subunit 1

PRO_0000119245

Regions

Domain

99 – 154

56

BSD 1

Domain

180 – 232

53

BSD 2

Natural variations

Natural variant

234

1

R → W. Ref.3
Corresponds to variant rs4150603 [ dbSNP | Ensembl ].

VAR_014345

Natural variant

285

1

S → F. Ref.3
Corresponds to variant rs4150636 [ dbSNP | Ensembl ].

VAR_014346

Natural variant

517

1

L → V. Ref.3
Corresponds to variant rs4150665 [ dbSNP | Ensembl ].

VAR_014347

Experimental info

Sequence conflict

292

1

S → P in BAB15621. Ref.2

Sequence conflict

385

1

G → A in BAB15621. Ref.2

Secondary structure

1

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548

Helix Strand Turn

Details...

Beta strand

3 – 5

3

Beta strand

8 – 13

6

Beta strand

23 – 27

5

Beta strand

30 – 34

5

Beta strand

36 – 40

5

Beta strand

42 – 46

5

Turn

47 – 49

3

Beta strand

53 – 55

3

Beta strand

58 – 62

5

Beta strand

64 – 68

5

Beta strand

70 – 72

3

Beta strand

74 – 78

5

Turn

82 – 84

3

Helix

87 – 103

17

Helix

109 – 120

12

Helix

122 – 132

11

Turn

133 – 135

3

Helix

139 – 146

8

Sequences

	Sequence		Length	Mass (Da)
	P32780 [UniParc]. Last modified October 1, 1993. Version 1. Checksum: 8F0FCEBBB1FC9C1D	FASTA	548	62,032
	10 20 30 40 50 60 MATSSEEVLL IVKKVRQKKQ DGALYLMAER IAWAPEGKDR FTISHMYADI KCQKISPEGK 70 80 90 100 110 120 AKIQLQLVLH AGDTTNFHFS NESTAVKERD AVKDLLQQLL PKFKRKANKE LEEKNRMLQE 130 140 150 160 170 180 DPVLFQLYKD LVVSQVISAE EFWANRLNVN ATDSSSTSNH KQDVGISAAF LADVRPQTDG 190 200 210 220 230 240 CNGLRYNLTS DIIESIFRTY PAVKMKYAEN VPHNMTEKEF WTRFFQSHYF HRDRLNTGSK 250 260 270 280 290 300 DLFAECAKID EKGLKTMVSL GVKNPLLDLT ALEDKPLDEG YGISSVPSAS NSKSIKENSN 310 320 330 340 350 360 AAIIKRFNHH SAMVLAAGLR KQEAQNEQTS EPSNMDGNSG DADCFQPAVK RAKLQESIEY 370 380 390 400 410 420 EDLGKNNSVK TIALNLKKSD RYYHGPTPIQ SLQYATSQDI INSFQSIRQE MEAYTPKLTQ 430 440 450 460 470 480 VLSSSAASST ITALSPGGAL MQGGTQQAIN QMVPNDIQSE LKHLYVAVGE LLRHFWSCFP 490 500 510 520 530 540 VNTPFLEEKV VKMKSNLERF QVTKLCPFQE KIRRQYLSTN LVSHIEEMLQ TAYNKLHTWQ SRRLMKKT

References

	« Hide 'large scale' referencesShow 'large scale' references »
[1]	"Cloning of the 62-kilodalton component of basic transcription factor BTF2." Fischer L., Gerard M., Chalut C., Lutz Y., Humbert S., Kanno M., Chambon P., Egly J.-M. Science 257:1392-1395(1992) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [MRNA].
[2]	"Complete sequencing and characterization of 21,243 full-length human cDNAs." Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S. Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]. Tissue: Liver.
[3]	NIEHS SNPs program Submitted (OCT-2002) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS TRP-234; PHE-285 AND VAL-517.
[4]	"Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201)." Ebert L., Schick M., Neubert P., Schatten R., Henze S., Korn B. Submitted (JUN-2004) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
[5]	Mural R.J., Istrail S., Sutton G.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. , 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 (SEP-2005) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[6]	"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: Lung.
[7]	"An aphidicolin-sensitive fragile site (FRA11C) lies within 100 kb of the putative tumour suppressor gene TSG101 on both human and mouse chromosomes." Critcher R., Palin A.H., Zhang J., Chin S.F., Gayther S.A., Li L., Cohen S.N., Caldas C., Farr C.J. Submitted (JAN-1999) to the EMBL/GenBank/DDBJ databases Cited for: NUCLEOTIDE SEQUENCE OF 521-548.
[8]	"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.
[9]	"The FBP interacting repressor targets TFIIH to inhibit activated transcription." Liu J., He L., Collins I., Ge H., Libutti D., Li J., Egly J.-M., Levens D. Mol. Cell 5:331-341(2000) [PubMed] [Europe PMC] [Abstract] Cited for: INTERACTION WITH PUF60.
[10]	"Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]	"Solution structure of the BSD domain of human TFIIH basal transcription factor complex p62 subunit." RIKEN structural genomics initiative (RSGI) Submitted (SEP-2006) to the PDB data bank Cited for: STRUCTURE BY NMR OF 103-155.
+	Additional computationally mapped references.

Web resources

NIEHS-SNPs

Cross-references

Sequence databases

EMBL
GenBank
DDBJ

M95809 mRNA. Translation: AAA58399.1.
AK027003 mRNA. Translation: BAB15621.1.
AY163770 Genomic DNA. Translation: AAN46740.1.
CR457368 mRNA. Translation: CAG33649.1.
CH471064 Genomic DNA. Translation: EAW68399.1.
CH471064 Genomic DNA. Translation: EAW68401.1.
BC000365 mRNA. Translation: AAH00365.1.
BC004452 mRNA. Translation: AAH04452.1.
AJ131959 Genomic DNA. Translation: CAC00685.1.

IPI

IPI00030380.

PIR

S27958.

RefSeq

NP_001135779.1. NM_001142307.1.
NP_005307.1. NM_005316.3.

UniGene

Hs.577202.

3D structure databases

PDBe
RCSB PDB
PDBj

Entry	Method	Resolution (Å)	Chain	Positions	PDBsum
1PFJ	NMR	-	A	1-108	[»]
2DII	NMR	-	A	103-150	[»]
2RNR	NMR	-	B	1-108	[»]

ProteinModelPortal

P32780.

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-708N.

IntAct

P32780. 11 interactions.

MINT

MINT-192215.

STRING

9606.ENSP00000265963.

PTM databases

PhosphoSite

P32780.

Polymorphism databases

DMDM

416727.

Proteomic databases

PaxDb

P32780.

PeptideAtlas

P32780.

PRIDE

P32780.

Protocols and materials databases

DNASU

2965.

StructuralBiologyKnowledgebase

Search...

Genome annotation databases

Ensembl

ENST00000265963; ENSP00000265963; ENSG00000110768.
ENST00000453096; ENSP00000393638; ENSG00000110768.

GeneID

2965.

KEGG

hsa:2965.

UCSC

uc001moh.2. human.

Organism-specific databases

CTD

2965.

GeneCards

GC11P018300.

HGNC

HGNC:4655. GTF2H1.

HPA

CAB004637.

MIM

189972. gene.

neXtProt

NX_P32780.

PharmGKB

PA29041.

GenAtlas

Search...

Phylogenomic databases

eggNOG

NOG315835.

HOGENOM

HOG000006589.

HOVERGEN

HBG060375.

InParanoid

P32780.

KO

K03141.

OMA

EQNGEPS.

OrthoDB

EOG4FJ88H.

PhylomeDB

P32780.

Enzyme and pathway databases

Reactome

REACT_116125. Disease.
REACT_1675. mRNA Processing.
REACT_1788. Transcription.
REACT_216. DNA Repair.
REACT_71. Gene Expression.

Gene expression databases

ArrayExpress

P32780.

Bgee

P32780.

CleanEx

HS_GTF2H1.

Genevestigator

P32780.

GermOnline

ENSG00000110768. Homo sapiens.

Family and domain databases

Gene3D

2.30.29.30. 1 hit.

InterPro

IPR005607. BSD.
IPR011993. PH_like_dom.
IPR027079. Tfb1/p62.
IPR013876. TFIIH_BTF_p62_N.
[Graphical view]

PANTHER

PTHR12856. PTHR12856. 1 hit.

Pfam

PF03909. BSD. 2 hits.
PF08567. TFIIH_BTF_p62_N. 1 hit.
[Graphical view]

SMART

SM00751. BSD. 2 hits.
[Graphical view]

PROSITE

PS50858. BSD. 2 hits.
[Graphical view]

ProtoNet

Search...

Other

EvolutionaryTrace

P32780.

GenomeRNAi

2965.

NextBio

11752.

SOURCE

Search...

Entry information

Entry name

TF2H1_HUMAN

Accession

Primary (citable) accession number: P32780
Secondary accession number(s): D3DQY2 , Q6I9Y7, Q9H5K5, Q9NQD9

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1993
Last sequence update:	October 1, 1993
Last modified:	May 1, 2013
This is version 126 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.