Reviewed, UniProtKB/Swiss-Prot P32780 (TF2H1_HUMAN)

Names and origin

Protein names

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

Gene names

Name:	GTF2H1
Synonyms:	BTF2

Organism

Homo sapiens (Human) [Complete proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

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

Protein attributes

Sequence length	548 AA.
Sequence status	Complete.
Sequence processing	The displayed sequence is further processed into a mature form.
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.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
PTM	Acetylation Phosphoprotein
Technical term	3D-structure Complete proteome
Gene Ontology (GO)
Biological process	RNA elongation from RNA polymerase II promoter Inferred from Experiment. Source: Reactome nucleotide-excision repair, DNA damage removal Inferred from Experiment. Source: Reactome positive regulation of transcription from RNA polymerase II promoter Inferred from direct assay. Source: UniProtKB regulation of cyclin-dependent protein kinase activity Traceable author statement. Source: ProtInc transcription initiation from RNA polymerase II promoter Inferred from Experiment. Source: Reactome
Cellular component	holo TFIIH complex Ref.8 Inferred from direct assay. Source: UniProtKB
Molecular function	general RNA polymerase II transcription factor activity Traceable author statement. Source: ProtInc protein binding Inferred from physical interaction. Source: UniProtKB
Complete GO annotation...

Sequence annotation (Features)

Feature key

Position(s)

Length

Description

Graphical view

Feature identifier

Molecule processing

Initiator methionine

1

1

Removed

Chain

2 – 548

547

General transcription factor IIH subunit 1

PRO_0000119245

Regions

Domain

99 – 154

56

BSD 1

Domain

180 – 232

53

BSD 2

Amino acid modifications

Modified residue

2

1

N-acetylalanine Ref.11

Modified residue

339

1

Phosphoserine Ref.11

Natural variations

Natural variant

234

1

R → W: dbSNP rs4150603. Ref.3

VAR_014345

Natural variant

285

1

S → F: dbSNP rs4150636. Ref.3

VAR_014346

Natural variant

517

1

L → V: dbSNP rs4150665. Ref.3

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

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

.

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

Helix

87 – 103

17

Sequences

	Sequence		Length	Mass (Da)
	P32780-1 [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: 1529339] [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: 14702039] [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: 15489334] [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: 9852112] [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: 10882074] [Abstract] Cited for: INTERACTION WITH PUF60.
[10]	Colinge J., Superti-Furga G., Bennett K.L. Submitted (OCT-2008) to UniProtKB Cited for: IDENTIFICATION [LARGE SCALE ANALYSIS], MASS SPECTROMETRY.
[11]	"Lys-N and trypsin cover complementary parts of the phosphoproteome in a refined SCX-based approach." Gauci S., Helbig A.O., Slijper M., Krijgsveld J., Heck A.J., Mohammed S. Anal. Chem. 81:4493-4501(2009) [PubMed: 19413330] [Abstract] Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT ALA-2, PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-339, MASS SPECTROMETRY.
[12]	"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.
BC000365 mRNA. Translation: AAH00365.1.
BC004452 mRNA. Translation: AAH04452.1.
AJ131959 Genomic DNA. Translation: CAC00685.1.

IPI

IPI00030380.

PIR

S27958.

RefSeq

NP_001135779.1.
NP_005307.1.

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	[»]

ModBase

Search...

Protein-protein interaction databases

DIP

DIP-708N.

IntAct

P32780. 2 interactions.

STRING

P32780.

PTM databases

PhosphoSite

P32780.

Proteomic databases

PeptideAtlas

P32780.

PRIDE

P32780.

Genome annotation databases

Ensembl

ENST00000265963; ENSP00000265963; ENSG00000110768; Homo sapiens. [Genome view]
ENST00000453096; ENSP00000393638; ENSG00000110768; Homo sapiens. [Genome view]

GeneID

2965.

KEGG

hsa:2965.

UCSC

uc001moh.1. human.

Organism-specific databases

CTD

2965.

GeneCards

GC11P018300.

H-InvDB

HIX0009486.

HGNC

HGNC:4655. GTF2H1.

HPA

CAB004637.

MIM

189972. gene.

PharmGKB

PA29041.

GenAtlas

Search...

Phylogenomic databases

eggNOG

prNOG11628.

HOGENOM

HBG713553.

HOVERGEN

P32780.

InParanoid

P32780.

OMA

EQNGEPS.

OrthoDB

EOG9CJZ3K.

PhylomeDB

P32780.

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

ArrayExpress

P32780.

Bgee

P32780.

CleanEx

HS_GTF2H1.

Genevestigator

P32780.

GermOnline

ENSG00000110768. Homo sapiens.

Family and domain databases

InterPro

IPR005607. BSD.
IPR011993. PH_type.
IPR013876. TFIIH_BTF_p62_N.
[Graphical view]

Gene3D

G3DSA:2.30.29.30. PH_type. 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 Resources

NextBio

11752.

SOURCE

Search...

Entry information

Entry name

TF2H1_HUMAN

Accession

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

Entry history

Integrated into UniProtKB/Swiss-Prot:	October 1, 1993
Last sequence update:	October 1, 1993
Last modified:	January 19, 2010
This is version 94 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation project

HPI (Human Proteome Initiative)

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.