GTF2H1

Functionⁱ

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.

GO - Molecular functionⁱ

chromatin binding Source: Ensembl

Complete GO annotation...

GO - Biological processⁱ

7-methylguanosine mRNA capping Source: Reactome
DNA repair
Source: ProtInc
Traceable author statementⁱ
- 9118947
global genome nucleotide-excision repair Source: Reactome
nucleotide-excision repair, DNA duplex unwinding Source: Reactome
nucleotide-excision repair, DNA incision Source: Reactome
nucleotide-excision repair, DNA incision, 3'-to lesion Source: Reactome
nucleotide-excision repair, DNA incision, 5'-to lesion Source: Reactome
nucleotide-excision repair, preincision complex assembly Source: Reactome
nucleotide-excision repair, preincision complex stabilization Source: Reactome
phosphorylation of RNA polymerase II C-terminal domain Source: GO_Central
positive regulation of transcription from RNA polymerase II promoter
Source: UniProtKB
Inferred from direct assayⁱ
- 8692841
regulation of cyclin-dependent protein serine/threonine kinase activity
Source: ProtInc
Traceable author statementⁱ
- 7533895
termination of RNA polymerase I transcription Source: Reactome
transcription-coupled nucleotide-excision repair Source: Reactome
transcription elongation from RNA polymerase II promoter Source: Reactome
transcription elongation from RNA polymerase I promoter Source: Reactome
transcription from RNA polymerase II promoter
Source: UniProtKB
Inferred from direct assayⁱ
- 9852112
transcription from RNA polymerase I promoter Source: GO_Central
transcription initiation from RNA polymerase II promoter Source: Reactome
transcription initiation from RNA polymerase I promoter Source: Reactome

Complete GO annotation...

Keywordsⁱ

Biological process	DNA damage, DNA repair, Transcription, Transcription regulation

Biological process

DNA damage, DNA repair, Transcription, Transcription regulation

Enzyme and pathway databases

Reactomeⁱ	R-HSA-112382. Formation of RNA Pol II elongation complex. R-HSA-113418. Formation of the Early Elongation Complex. R-HSA-167152. Formation of HIV elongation complex in the absence of HIV Tat. R-HSA-167158. Formation of the HIV-1 Early Elongation Complex. R-HSA-167160. RNA Pol II CTD phosphorylation and interaction with CE during HIV infection. R-HSA-167161. HIV Transcription Initiation. R-HSA-167162. RNA Polymerase II HIV Promoter Escape. R-HSA-167172. Transcription of the HIV genome. R-HSA-167200. Formation of HIV-1 elongation complex containing HIV-1 Tat. R-HSA-167246. Tat-mediated elongation of the HIV-1 transcript. R-HSA-427413. NoRC negatively regulates rRNA expression. R-HSA-5696395. Formation of Incision Complex in GG-NER. R-HSA-5696400. Dual Incision in GG-NER. R-HSA-674695. RNA Polymerase II Pre-transcription Events. R-HSA-6781823. Formation of TC-NER Pre-Incision Complex. R-HSA-6781827. Transcription-Coupled Nucleotide Excision Repair (TC-NER). R-HSA-6782135. Dual incision in TC-NER. R-HSA-6782210. Gap-filling DNA repair synthesis and ligation in TC-NER. R-HSA-6796648. TP53 Regulates Transcription of DNA Repair Genes. R-HSA-72086. mRNA Capping. R-HSA-73762. RNA Polymerase I Transcription Initiation. R-HSA-73772. RNA Polymerase I Promoter Escape. R-HSA-73776. RNA Polymerase II Promoter Escape. R-HSA-73777. RNA Polymerase I Chain Elongation. R-HSA-73779. RNA Polymerase II Transcription Pre-Initiation And Promoter Opening. R-HSA-73863. RNA Polymerase I Transcription Termination. R-HSA-75953. RNA Polymerase II Transcription Initiation. R-HSA-75955. RNA Polymerase II Transcription Elongation. R-HSA-76042. RNA Polymerase II Transcription Initiation And Promoter Clearance. R-HSA-77075. RNA Pol II CTD phosphorylation and interaction with CE.
SIGNORⁱ	P32780.

Reactomeⁱ

R-HSA-112382. Formation of RNA Pol II elongation complex.
R-HSA-113418. Formation of the Early Elongation Complex.
R-HSA-167152. Formation of HIV elongation complex in the absence of HIV Tat.
R-HSA-167158. Formation of the HIV-1 Early Elongation Complex.
R-HSA-167160. RNA Pol II CTD phosphorylation and interaction with CE during HIV infection.
R-HSA-167161. HIV Transcription Initiation.
R-HSA-167162. RNA Polymerase II HIV Promoter Escape.
R-HSA-167172. Transcription of the HIV genome.
R-HSA-167200. Formation of HIV-1 elongation complex containing HIV-1 Tat.
R-HSA-167246. Tat-mediated elongation of the HIV-1 transcript.
R-HSA-427413. NoRC negatively regulates rRNA expression.
R-HSA-5696395. Formation of Incision Complex in GG-NER.
R-HSA-5696400. Dual Incision in GG-NER.
R-HSA-674695. RNA Polymerase II Pre-transcription Events.
R-HSA-6781823. Formation of TC-NER Pre-Incision Complex.
R-HSA-6781827. Transcription-Coupled Nucleotide Excision Repair (TC-NER).
R-HSA-6782135. Dual incision in TC-NER.
R-HSA-6782210. Gap-filling DNA repair synthesis and ligation in TC-NER.
R-HSA-6796648. TP53 Regulates Transcription of DNA Repair Genes.
R-HSA-72086. mRNA Capping.
R-HSA-73762. RNA Polymerase I Transcription Initiation.
R-HSA-73772. RNA Polymerase I Promoter Escape.
R-HSA-73776. RNA Polymerase II Promoter Escape.
R-HSA-73777. RNA Polymerase I Chain Elongation.
R-HSA-73779. RNA Polymerase II Transcription Pre-Initiation And Promoter Opening.
R-HSA-73863. RNA Polymerase I Transcription Termination.
R-HSA-75953. RNA Polymerase II Transcription Initiation.
R-HSA-75955. RNA Polymerase II Transcription Elongation.
R-HSA-76042. RNA Polymerase II Transcription Initiation And Promoter Clearance.
R-HSA-77075. RNA Pol II CTD phosphorylation and interaction with CE.

SIGNORⁱ

P32780.

Names & Taxonomyⁱ

Protein namesⁱ	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 namesⁱ	Name:GTF2H1 Synonyms:BTF2
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640 Componentⁱ: Chromosome 11

Organism-specific databases

Human Gene Nomenclature Database More...HGNCⁱ	HGNC:4655. GTF2H1.

HGNCⁱ

HGNC:4655. GTF2H1.

Subcellular locationⁱ

Nucleus

GO - Cellular componentⁱ

core TFIIH complex Source: GO_Central
holo TFIIH complex
Source: UniProtKB
Inferred from direct assayⁱ
- 9852112
nucleoplasm Source: HPA

Complete GO annotation...

Keywords - Cellular componentⁱ

Nucleus

Pathology & Biotechⁱ

Organism-specific databases

DisGeNET More...DisGeNETⁱ	2965.
MalaCards human disease database More...MalaCardsⁱ	GTF2H1.
Open Targets More...OpenTargetsⁱ	ENSG00000110768.
PharmGKBⁱ	PA29041.

Polymorphism and mutation databases

BioMutaⁱ	GTF2H1.
DMDMⁱ	416727.

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	DescriptionActions	Graphical view	Length
ChainⁱPRO_0000119245	1 – 548	General transcription factor IIH subunit 1Add BLAST		548

Amino acid modifications

Feature key	Position(s)	DescriptionActions	Length
Modified residueⁱ	240	N6-acetyllysineBy similarity	1
Modified residueⁱ	339	PhosphoserineCombined sources	1
Modified residueⁱ	357	PhosphoserineCombined sources	1

Keywords - PTMⁱ

Acetylation, Phosphoprotein

Proteomic databases

EPDⁱ	P32780.
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P32780.
PaxDbⁱ	P32780.
PeptideAtlas More...PeptideAtlasⁱ	P32780.
PRIDEⁱ	P32780.

PTM databases

iPTMnetⁱ	P32780.
PhosphoSitePlusⁱ	P32780.

Expressionⁱ

Gene expression databases

Bgeeⁱ	ENSG00000110768.
CleanExⁱ	HS_GTF2H1.
ExpressionAtlasⁱ	P32780. baseline and differential.
Genevisibleⁱ	P32780. HS.

Organism-specific databases

Human Protein Atlas More...HPAⁱ	CAB004637. HPA046660.

HPAⁱ

CAB004637.
HPA046660.

Interactionⁱ

Subunit structureⁱ

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 PUF60.2 Publications

Binary interactionsⁱ

With	Entry	#Exp.	IntAct
GTF2E1	P29083	19	EBI-715539,EBI-5462215
TP53	P04637	5	EBI-715539,EBI-366083
XPC	Q01831	2	EBI-715539,EBI-372610

Show more details

Protein-protein interaction databases

BioGridⁱ	109220. 55 interactors.
Database of interacting proteins More...DIPⁱ	DIP-708N.
IntActⁱ	P32780. 17 interactors.
Molecular INTeraction database More...MINTⁱ	MINT-192215.
STRINGⁱ	9606.ENSP00000265963.

Structureⁱ

Secondary structure

Legend: HelixTurnBeta strandPDB Structure known for this area

Show more details

Feature key	Position(s)	DescriptionActions	Length
Beta strandⁱ	3 – 5	Combined sources	3
Beta strandⁱ	8 – 13	Combined sources	6
Beta strandⁱ	14 – 17	Combined sources	4
Beta strandⁱ	23 – 27	Combined sources	5
Beta strandⁱ	30 – 34	Combined sources	5
Beta strandⁱ	36 – 40	Combined sources	5
Beta strandⁱ	42 – 46	Combined sources	5
Turnⁱ	47 – 49	Combined sources	3
Beta strandⁱ	53 – 55	Combined sources	3
Beta strandⁱ	58 – 62	Combined sources	5
Beta strandⁱ	64 – 68	Combined sources	5
Beta strandⁱ	70 – 72	Combined sources	3
Beta strandⁱ	74 – 78	Combined sources	5
Turnⁱ	82 – 84	Combined sources	3
Helixⁱ	87 – 103	Combined sources	17
Helixⁱ	109 – 120	Combined sources	12
Helixⁱ	122 – 132	Combined sources	11
Turnⁱ	133 – 135	Combined sources	3
Helixⁱ	139 – 146	Combined sources	8

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	1PFJ	NMR	-	A	1-108	[»]
	2DII	NMR	-	A	103-150	[»]
	2RNR	NMR	-	B	1-108	[»]
	2RUK	NMR	-	B	1-108	[»]
	2RVB	NMR	-	B	1-108	[»]
	5GOW	NMR	-	B	1-108	[»]
ProteinModelPortalⁱ	P32780.
SMRⁱ	P32780.
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Miscellaneous databases

EvolutionaryTraceⁱ

P32780.

Family & Domainsⁱ

Domains and Repeats

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Domainⁱ	99 – 154	BSD 1PROSITE-ProRule annotationAdd BLAST		56
Domainⁱ	180 – 232	BSD 2PROSITE-ProRule annotationAdd BLAST		53

Keywords - Domainⁱ

Repeat

Phylogenomic databases

eggNOGⁱ	KOG2074. Eukaryota. ENOG410XRI6. LUCA.
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000015066.
HOGENOMⁱ	HOG000006589.
HOVERGENⁱ	HBG060375.
InParanoidⁱ	P32780.
KEGG Orthology (KO) More...KOⁱ	K03141.
OMAⁱ	EQNGEPS.
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G06OP.
PhylomeDBⁱ	P32780.
TreeFamⁱ	TF314689.

Family and domain databases

Gene3Dⁱ	1.10.3970.10. 1 hit. 2.30.29.30. 1 hit.
InterProⁱ	View protein in InterPro IPR005607. BSD_dom. IPR011993. PH_dom-like. IPR027079. Tfb1/p62. IPR013876. TFIIH_BTF_p62_N.
PANTHERⁱ	PTHR12856. PTHR12856. 1 hit.
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF03909. BSD. 1 hit. PF08567. PH_TFIIH. 1 hit.
SMARTⁱ	View protein in SMART SM00751. BSD. 2 hits.
SUPFAMⁱ	SSF140383. SSF140383. 2 hits. SSF50729. SSF50729. 1 hit.
PROSITEⁱ	View protein in PROSITE PS50858. BSD. 2 hits.

Sequences (2)ⁱ

Sequence statusⁱ: Complete.

This entry describes 2 isoformsⁱ produced by alternative splicing. Align Add to basket Added to basket

Isoform 1 (identifier: P32780-1) [UniParc]FASTA Add to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

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

Length:548

Mass (Da):62,032

Last modified:October 1, 1993 - v1

Checksum:ⁱ8F0FCEBBB1FC9C1D

GO

Isoform 2 (identifier: P32780-2) [UniParc]FASTA Add to basket

The sequence of this isoform differs from the canonical sequence as follows:
1-116: Missing.

« Hide

        10         20         30         40         50
MLQEDPVLFQ LYKDLVVSQV ISAEEFWANR LNVNATDSSS TSNHKQDVGI 
        60         70         80         90        100
SAAFLADVRP QTDGCNGLRY NLTSDIIESI FRTYPAVKMK YAENVPHNMT 
       110        120        130        140        150
EKEFWTRFFQ SHYFHRDRLN TGSKDLFAEC AKIDEKGLKT MVSLGVKNPL 
       160        170        180        190        200
LDLTALEDKP LDEGYGISSV PSASNSKSIK ENSNAAIIKR FNHHSAMVLA 
       210        220        230        240        250
AGLRKQEAQN EQTSEPSNMD GNSGDADCFQ PAVKRAKLQE SIEYEDLGKN 
       260        270        280        290        300
NSVKTIALNL KKSDRYYHGP TPIQSLQYAT SQDIINSFQS IRQEMEAYTP 
       310        320        330        340        350
KLTQVLSSSA ASSTITALSP GGALMQGGTQ QAINQMVPND IQSELKHLYV 
       360        370        380        390        400
AVGELLRHFW SCFPVNTPFL EEKVVKMKSN LERFQVTKLC PFQEKIRRQY 
       410        420        430 
LSTNLVSHIE EMLQTAYNKL HTWQSRRLMK KT

Note: No experimental confirmation available.

Show »

Length:432

Mass (Da):48,738

Checksum:ⁱ894C7C56EF0407DE

GO

Experimental Info

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Sequence conflictⁱ	292	S → P in BAB15621 (PubMed:14702039).Curated		1
Sequence conflictⁱ	385	G → A in BAB15621 (PubMed:14702039).Curated		1

Natural variant

Feature key	Position(s)	DescriptionActions	Length
Natural variantⁱVAR_014345	234	R → W1 PublicationCorresponds to variant dbSNP:rs4150603Ensembl.	1
Natural variantⁱVAR_014346	285	S → F1 PublicationCorresponds to variant dbSNP:rs4150636Ensembl.	1
Natural variantⁱVAR_014347	517	L → V1 PublicationCorresponds to variant dbSNP:rs4150665Ensembl.	1

Alternative sequence

Feature key	Position(s)	DescriptionActions	Graphical view	Length
Alternative sequenceⁱVSP_056562	1 – 116	Missing in isoform 2. 1 PublicationAdd BLAST		116

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	M95809 mRNA. Translation: AAA58399.1. AK027003 mRNA. Translation: BAB15621.1. AK127204 mRNA. Translation: BAG54452.1. AY163770 Genomic DNA. Translation: AAN46740.1. CR457368 mRNA. Translation: CAG33649.1. AC084117 Genomic DNA. No translation available. CH471064 Genomic DNA. Translation: EAW68399.1. CH471064 Genomic DNA. Translation: EAW68400.1. CH471064 Genomic DNA. Translation: EAW68401.1. BC000365 mRNA. Translation: AAH00365.1. BC004452 mRNA. Translation: AAH04452.1. AJ131959 Genomic DNA. Translation: CAC00685.1.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS7838.1. [P32780-1]
PIRⁱ	S27958.
NCBI Reference Sequences More...RefSeqⁱ	NP_001135779.1. NM_001142307.1. [P32780-1] NP_005307.1. NM_005316.3. [P32780-1] XP_006718271.1. XM_006718208.3. [P32780-1]
UniGeneⁱ	Hs.577202.

Genome annotation databases

Ensemblⁱ	ENST00000265963; ENSP00000265963; ENSG00000110768. [P32780-1] ENST00000453096; ENSP00000393638; ENSG00000110768. [P32780-1] ENST00000534641; ENSP00000435375; ENSG00000110768. [P32780-2]
GeneIDⁱ	2965.
KEGGⁱ	hsa:2965.
UCSC genome browser More...UCSCⁱ	uc001moh.3. human. [P32780-1]

Keywords - Coding sequence diversityⁱ

Alternative splicing, Polymorphism

Similar proteinsⁱ

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:

100%	UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into one UniRef entry.
90%	UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%	UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

Cross-referencesⁱ

Web resourcesⁱ

NIEHS-SNPs

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	M95809 mRNA. Translation: AAA58399.1. AK027003 mRNA. Translation: BAB15621.1. AK127204 mRNA. Translation: BAG54452.1. AY163770 Genomic DNA. Translation: AAN46740.1. CR457368 mRNA. Translation: CAG33649.1. AC084117 Genomic DNA. No translation available. CH471064 Genomic DNA. Translation: EAW68399.1. CH471064 Genomic DNA. Translation: EAW68400.1. CH471064 Genomic DNA. Translation: EAW68401.1. BC000365 mRNA. Translation: AAH00365.1. BC004452 mRNA. Translation: AAH04452.1. AJ131959 Genomic DNA. Translation: CAC00685.1.
The Consensus CDS (CCDS) project More...CCDSⁱ	CCDS7838.1. [P32780-1]
PIRⁱ	S27958.
NCBI Reference Sequences More...RefSeqⁱ	NP_001135779.1. NM_001142307.1. [P32780-1] NP_005307.1. NM_005316.3. [P32780-1] XP_006718271.1. XM_006718208.3. [P32780-1]
UniGeneⁱ	Hs.577202.

3D structure databases

Select the link destinations: Protein Data Bank Europe More...PDBeⁱ Protein Data Bank RCSB More...RCSB PDBⁱ Protein Data Bank Japan More...PDBjⁱ Links Updated	PDB entry	Method	Resolution (Å)	Chain	Positions	PDBsum
	1PFJ	NMR	-	A	1-108	[»]
	2DII	NMR	-	A	103-150	[»]
	2RNR	NMR	-	B	1-108	[»]
	2RUK	NMR	-	B	1-108	[»]
	2RVB	NMR	-	B	1-108	[»]
	5GOW	NMR	-	B	1-108	[»]
ProteinModelPortalⁱ	P32780.
SMRⁱ	P32780.
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	109220. 55 interactors.
Database of interacting proteins More...DIPⁱ	DIP-708N.
IntActⁱ	P32780. 17 interactors.
Molecular INTeraction database More...MINTⁱ	MINT-192215.
STRINGⁱ	9606.ENSP00000265963.

PTM databases

iPTMnetⁱ	P32780.
PhosphoSitePlusⁱ	P32780.

Polymorphism and mutation databases

BioMutaⁱ	GTF2H1.
DMDMⁱ	416727.

Proteomic databases

EPDⁱ	P32780.
MaxQB - The MaxQuant DataBase More...MaxQBⁱ	P32780.
PaxDbⁱ	P32780.
PeptideAtlas More...PeptideAtlasⁱ	P32780.
PRIDEⁱ	P32780.

Protocols and materials databases

The DNASU plasmid repository More...DNASUⁱ	2965.
Structural Biology Knowledgebase	Search...

Genome annotation databases

Ensemblⁱ	ENST00000265963; ENSP00000265963; ENSG00000110768. [P32780-1] ENST00000453096; ENSP00000393638; ENSG00000110768. [P32780-1] ENST00000534641; ENSP00000435375; ENSG00000110768. [P32780-2]
GeneIDⁱ	2965.
KEGGⁱ	hsa:2965.
UCSC genome browser More...UCSCⁱ	uc001moh.3. human. [P32780-1]

Organism-specific databases

CTDⁱ	2965.
DisGeNET More...DisGeNETⁱ	2965.
GeneCardsⁱ	GTF2H1.
Human Gene Nomenclature Database More...HGNCⁱ	HGNC:4655. GTF2H1.
Human Protein Atlas More...HPAⁱ	CAB004637. HPA046660.
MalaCards human disease database More...MalaCardsⁱ	GTF2H1.
MIMⁱ	189972. gene.
neXtProtⁱ	NX_P32780.
Open Targets More...OpenTargetsⁱ	ENSG00000110768.
PharmGKBⁱ	PA29041.
GenAtlas: human gene database More...GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	KOG2074. Eukaryota. ENOG410XRI6. LUCA.
Ensembl GeneTree More...GeneTreeⁱ	ENSGT00390000015066.
HOGENOMⁱ	HOG000006589.
HOVERGENⁱ	HBG060375.
InParanoidⁱ	P32780.
KEGG Orthology (KO) More...KOⁱ	K03141.
OMAⁱ	EQNGEPS.
Database of Orthologous Groups More...OrthoDBⁱ	EOG091G06OP.
PhylomeDBⁱ	P32780.
TreeFamⁱ	TF314689.

Enzyme and pathway databases

Reactomeⁱ	R-HSA-112382. Formation of RNA Pol II elongation complex. R-HSA-113418. Formation of the Early Elongation Complex. R-HSA-167152. Formation of HIV elongation complex in the absence of HIV Tat. R-HSA-167158. Formation of the HIV-1 Early Elongation Complex. R-HSA-167160. RNA Pol II CTD phosphorylation and interaction with CE during HIV infection. R-HSA-167161. HIV Transcription Initiation. R-HSA-167162. RNA Polymerase II HIV Promoter Escape. R-HSA-167172. Transcription of the HIV genome. R-HSA-167200. Formation of HIV-1 elongation complex containing HIV-1 Tat. R-HSA-167246. Tat-mediated elongation of the HIV-1 transcript. R-HSA-427413. NoRC negatively regulates rRNA expression. R-HSA-5696395. Formation of Incision Complex in GG-NER. R-HSA-5696400. Dual Incision in GG-NER. R-HSA-674695. RNA Polymerase II Pre-transcription Events. R-HSA-6781823. Formation of TC-NER Pre-Incision Complex. R-HSA-6781827. Transcription-Coupled Nucleotide Excision Repair (TC-NER). R-HSA-6782135. Dual incision in TC-NER. R-HSA-6782210. Gap-filling DNA repair synthesis and ligation in TC-NER. R-HSA-6796648. TP53 Regulates Transcription of DNA Repair Genes. R-HSA-72086. mRNA Capping. R-HSA-73762. RNA Polymerase I Transcription Initiation. R-HSA-73772. RNA Polymerase I Promoter Escape. R-HSA-73776. RNA Polymerase II Promoter Escape. R-HSA-73777. RNA Polymerase I Chain Elongation. R-HSA-73779. RNA Polymerase II Transcription Pre-Initiation And Promoter Opening. R-HSA-73863. RNA Polymerase I Transcription Termination. R-HSA-75953. RNA Polymerase II Transcription Initiation. R-HSA-75955. RNA Polymerase II Transcription Elongation. R-HSA-76042. RNA Polymerase II Transcription Initiation And Promoter Clearance. R-HSA-77075. RNA Pol II CTD phosphorylation and interaction with CE.
SIGNORⁱ	P32780.

Reactomeⁱ

R-HSA-112382. Formation of RNA Pol II elongation complex.
R-HSA-113418. Formation of the Early Elongation Complex.
R-HSA-167152. Formation of HIV elongation complex in the absence of HIV Tat.
R-HSA-167158. Formation of the HIV-1 Early Elongation Complex.
R-HSA-167160. RNA Pol II CTD phosphorylation and interaction with CE during HIV infection.
R-HSA-167161. HIV Transcription Initiation.
R-HSA-167162. RNA Polymerase II HIV Promoter Escape.
R-HSA-167172. Transcription of the HIV genome.
R-HSA-167200. Formation of HIV-1 elongation complex containing HIV-1 Tat.
R-HSA-167246. Tat-mediated elongation of the HIV-1 transcript.
R-HSA-427413. NoRC negatively regulates rRNA expression.
R-HSA-5696395. Formation of Incision Complex in GG-NER.
R-HSA-5696400. Dual Incision in GG-NER.
R-HSA-674695. RNA Polymerase II Pre-transcription Events.
R-HSA-6781823. Formation of TC-NER Pre-Incision Complex.
R-HSA-6781827. Transcription-Coupled Nucleotide Excision Repair (TC-NER).
R-HSA-6782135. Dual incision in TC-NER.
R-HSA-6782210. Gap-filling DNA repair synthesis and ligation in TC-NER.
R-HSA-6796648. TP53 Regulates Transcription of DNA Repair Genes.
R-HSA-72086. mRNA Capping.
R-HSA-73762. RNA Polymerase I Transcription Initiation.
R-HSA-73772. RNA Polymerase I Promoter Escape.
R-HSA-73776. RNA Polymerase II Promoter Escape.
R-HSA-73777. RNA Polymerase I Chain Elongation.
R-HSA-73779. RNA Polymerase II Transcription Pre-Initiation And Promoter Opening.
R-HSA-73863. RNA Polymerase I Transcription Termination.
R-HSA-75953. RNA Polymerase II Transcription Initiation.
R-HSA-75955. RNA Polymerase II Transcription Elongation.
R-HSA-76042. RNA Polymerase II Transcription Initiation And Promoter Clearance.
R-HSA-77075. RNA Pol II CTD phosphorylation and interaction with CE.

SIGNORⁱ

P32780.

Miscellaneous databases

EvolutionaryTraceⁱ	P32780.
GeneWikiⁱ	GTF2H1.
GenomeRNAiⁱ	2965.
Protein Ontology More...PROⁱ	PR:P32780.
SOURCEⁱ	Search...

Gene expression databases

Bgeeⁱ	ENSG00000110768.
CleanExⁱ	HS_GTF2H1.
ExpressionAtlasⁱ	P32780. baseline and differential.
Genevisibleⁱ	P32780. HS.

Family and domain databases

Gene3Dⁱ	1.10.3970.10. 1 hit. 2.30.29.30. 1 hit.
InterProⁱ	View protein in InterPro IPR005607. BSD_dom. IPR011993. PH_dom-like. IPR027079. Tfb1/p62. IPR013876. TFIIH_BTF_p62_N.
PANTHERⁱ	PTHR12856. PTHR12856. 1 hit.
Pfam protein domain database More...Pfamⁱ	View protein in Pfam PF03909. BSD. 1 hit. PF08567. PH_TFIIH. 1 hit.
SMARTⁱ	View protein in SMART SM00751. BSD. 2 hits.
SUPFAMⁱ	SSF140383. SSF140383. 2 hits. SSF50729. SSF50729. 1 hit.
PROSITEⁱ	View protein in PROSITE PS50858. BSD. 2 hits.
ProtoNetⁱ	Search...

Entry informationⁱ

Entry nameⁱ	TF2H1_HUMAN
Accessionⁱ	P32780Primary (citable) accession number: P32780 Secondary accession number(s): B3KXE0 , D3DQY2, Q6I9Y7, Q9H5K5, Q9NQD9
Entry historyⁱ	Integrated into UniProtKB/Swiss-Prot:	October 1, 1993
	Last sequence update:	October 1, 1993
	Last modified:	June 7, 2017
	This is version 167 of the entry and version 1 of the sequence. See complete history.
Entry statusⁱ	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.

Miscellaneousⁱ

Keywords - Technical termⁱ

3D-structure, Complete proteome, Reference proteome

Documents

Human chromosome 11
Human chromosome 11: entries, gene names and cross-references to MIM
Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
PDB cross-references
Index of Protein Data Bank (PDB) cross-references

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UniProtKB - P32780 (TF2H1_HUMAN)

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General transcription factor IIH subunit 1

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<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Cellular componenti

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

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<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

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Amino acid modifications

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<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

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<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

3D structure databases

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<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

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Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including length and molecular weight.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (2)i

Experimental Info

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Sequence databases

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<p>This subsection of the <a href="http://www.uniprot.org/manual/cross_references_section">Cross-references</a> section provides links to various web resources that are relevant for a specific protein.<p><a href='/help/web_resource' target='_top'>More...</a></p>Web resourcesi

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<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

GO - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequences (2)ⁱ

Cross-referencesⁱ

Web resourcesⁱ

Entry informationⁱ

Miscellaneousⁱ