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Protein

General transcription factor IIH subunit 1

Gene

GTF2H1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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

GO - Biological processi

Complete GO annotation...

Keywords - Biological processi

DNA damage, DNA repair, Transcription, Transcription regulation

Enzyme and pathway databases

BioCyciZFISH:ENSG00000110768-MONOMER.
ReactomeiR-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.
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.
SIGNORiP32780.

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
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 11

Organism-specific databases

HGNCiHGNC:4655. GTF2H1.

Subcellular locationi

GO - Cellular componenti

  • core TFIIH complex Source: GO_Central
  • holo TFIIH complex Source: UniProtKB
  • nucleoplasm Source: HPA
Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

DisGeNETi2965.
OpenTargetsiENSG00000110768.
PharmGKBiPA29041.

Polymorphism and mutation databases

BioMutaiGTF2H1.
DMDMi416727.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00001192451 – 548General transcription factor IIH subunit 1Add BLAST548

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei240N6-acetyllysineBy similarity1
Modified residuei339PhosphoserineCombined sources1
Modified residuei357PhosphoserineCombined sources1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP32780.
MaxQBiP32780.
PaxDbiP32780.
PeptideAtlasiP32780.
PRIDEiP32780.

PTM databases

iPTMnetiP32780.
PhosphoSitePlusiP32780.

Expressioni

Gene expression databases

BgeeiENSG00000110768.
CleanExiHS_GTF2H1.
ExpressionAtlasiP32780. baseline and differential.
GenevisibleiP32780. HS.

Organism-specific databases

HPAiCAB004637.
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

WithEntry#Exp.IntActNotes
GTF2E1P2908319EBI-715539,EBI-5462215
TP53P046375EBI-715539,EBI-366083
XPCQ018312EBI-715539,EBI-372610

Protein-protein interaction databases

BioGridi109220. 55 interactors.
DIPiDIP-708N.
IntActiP32780. 17 interactors.
MINTiMINT-192215.
STRINGi9606.ENSP00000265963.

Structurei

Secondary structure

1548
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi3 – 5Combined sources3
Beta strandi8 – 13Combined sources6
Beta strandi14 – 17Combined sources4
Beta strandi23 – 27Combined sources5
Beta strandi30 – 34Combined sources5
Beta strandi36 – 40Combined sources5
Beta strandi42 – 46Combined sources5
Turni47 – 49Combined sources3
Beta strandi53 – 55Combined sources3
Beta strandi58 – 62Combined sources5
Beta strandi64 – 68Combined sources5
Beta strandi70 – 72Combined sources3
Beta strandi74 – 78Combined sources5
Turni82 – 84Combined sources3
Helixi87 – 103Combined sources17
Helixi109 – 120Combined sources12
Helixi122 – 132Combined sources11
Turni133 – 135Combined sources3
Helixi139 – 146Combined sources8

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1PFJNMR-A1-108[»]
2DIINMR-A103-150[»]
2RNRNMR-B1-108[»]
2RUKNMR-B1-108[»]
2RVBNMR-B1-108[»]
ProteinModelPortaliP32780.
SMRiP32780.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP32780.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini99 – 154BSD 1PROSITE-ProRule annotationAdd BLAST56
Domaini180 – 232BSD 2PROSITE-ProRule annotationAdd BLAST53

Sequence similaritiesi

Contains 2 BSD domains.PROSITE-ProRule annotation

Keywords - Domaini

Repeat

Phylogenomic databases

eggNOGiKOG2074. Eukaryota.
ENOG410XRI6. LUCA.
GeneTreeiENSGT00390000015066.
HOGENOMiHOG000006589.
HOVERGENiHBG060375.
InParanoidiP32780.
KOiK03141.
OMAiTAYNKFH.
OrthoDBiEOG091G06OP.
PhylomeDBiP32780.
TreeFamiTF314689.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR005607. BSD_dom.
IPR011993. PH_dom-like.
IPR027079. Tfb1/p62.
IPR013876. TFIIH_BTF_p62_N.
[Graphical view]
PANTHERiPTHR12856. PTHR12856. 1 hit.
PfamiPF03909. BSD. 1 hit.
PF08567. PH_TFIIH. 1 hit.
[Graphical view]
SMARTiSM00751. BSD. 2 hits.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 1 hit.
PROSITEiPS50858. BSD. 2 hits.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. AlignAdd to basket

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

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

Note: No experimental confirmation available.
Show »
Length:432
Mass (Da):48,738
Checksum:i894C7C56EF0407DE
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti292S → P in BAB15621 (PubMed:14702039).Curated1
Sequence conflicti385G → A in BAB15621 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_014345234R → W.1 PublicationCorresponds to variant rs4150603dbSNPEnsembl.1
Natural variantiVAR_014346285S → F.1 PublicationCorresponds to variant rs4150636dbSNPEnsembl.1
Natural variantiVAR_014347517L → V.1 PublicationCorresponds to variant rs4150665dbSNPEnsembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0565621 – 116Missing in isoform 2. 1 PublicationAdd BLAST116

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.
CCDSiCCDS7838.1. [P32780-1]
PIRiS27958.
RefSeqiNP_001135779.1. NM_001142307.1. [P32780-1]
NP_005307.1. NM_005316.3. [P32780-1]
XP_006718271.1. XM_006718208.3. [P32780-1]
UniGeneiHs.577202.

Genome annotation databases

EnsembliENST00000265963; ENSP00000265963; ENSG00000110768. [P32780-1]
ENST00000453096; ENSP00000393638; ENSG00000110768. [P32780-1]
ENST00000534641; ENSP00000435375; ENSG00000110768. [P32780-2]
GeneIDi2965.
KEGGihsa:2965.
UCSCiuc001moh.3. human. [P32780-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

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.
CCDSiCCDS7838.1. [P32780-1]
PIRiS27958.
RefSeqiNP_001135779.1. NM_001142307.1. [P32780-1]
NP_005307.1. NM_005316.3. [P32780-1]
XP_006718271.1. XM_006718208.3. [P32780-1]
UniGeneiHs.577202.

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1PFJNMR-A1-108[»]
2DIINMR-A103-150[»]
2RNRNMR-B1-108[»]
2RUKNMR-B1-108[»]
2RVBNMR-B1-108[»]
ProteinModelPortaliP32780.
SMRiP32780.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi109220. 55 interactors.
DIPiDIP-708N.
IntActiP32780. 17 interactors.
MINTiMINT-192215.
STRINGi9606.ENSP00000265963.

PTM databases

iPTMnetiP32780.
PhosphoSitePlusiP32780.

Polymorphism and mutation databases

BioMutaiGTF2H1.
DMDMi416727.

Proteomic databases

EPDiP32780.
MaxQBiP32780.
PaxDbiP32780.
PeptideAtlasiP32780.
PRIDEiP32780.

Protocols and materials databases

DNASUi2965.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000265963; ENSP00000265963; ENSG00000110768. [P32780-1]
ENST00000453096; ENSP00000393638; ENSG00000110768. [P32780-1]
ENST00000534641; ENSP00000435375; ENSG00000110768. [P32780-2]
GeneIDi2965.
KEGGihsa:2965.
UCSCiuc001moh.3. human. [P32780-1]

Organism-specific databases

CTDi2965.
DisGeNETi2965.
GeneCardsiGTF2H1.
HGNCiHGNC:4655. GTF2H1.
HPAiCAB004637.
HPA046660.
MIMi189972. gene.
neXtProtiNX_P32780.
OpenTargetsiENSG00000110768.
PharmGKBiPA29041.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG2074. Eukaryota.
ENOG410XRI6. LUCA.
GeneTreeiENSGT00390000015066.
HOGENOMiHOG000006589.
HOVERGENiHBG060375.
InParanoidiP32780.
KOiK03141.
OMAiTAYNKFH.
OrthoDBiEOG091G06OP.
PhylomeDBiP32780.
TreeFamiTF314689.

Enzyme and pathway databases

BioCyciZFISH:ENSG00000110768-MONOMER.
ReactomeiR-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.
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.
SIGNORiP32780.

Miscellaneous databases

EvolutionaryTraceiP32780.
GeneWikiiGTF2H1.
GenomeRNAii2965.
PROiP32780.
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000110768.
CleanExiHS_GTF2H1.
ExpressionAtlasiP32780. baseline and differential.
GenevisibleiP32780. HS.

Family and domain databases

Gene3Di2.30.29.30. 1 hit.
InterProiIPR005607. BSD_dom.
IPR011993. PH_dom-like.
IPR027079. Tfb1/p62.
IPR013876. TFIIH_BTF_p62_N.
[Graphical view]
PANTHERiPTHR12856. PTHR12856. 1 hit.
PfamiPF03909. BSD. 1 hit.
PF08567. PH_TFIIH. 1 hit.
[Graphical view]
SMARTiSM00751. BSD. 2 hits.
[Graphical view]
SUPFAMiSSF50729. SSF50729. 1 hit.
PROSITEiPS50858. BSD. 2 hits.
[Graphical view]
ProtoNetiSearch...

Entry informationi

Entry nameiTF2H1_HUMAN
AccessioniPrimary (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: November 30, 2016
This is version 163 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

  1. Human chromosome 11
    Human chromosome 11: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. PDB cross-references
    Index of Protein Data Bank (PDB) cross-references
  6. SIMILARITY comments
    Index of protein domains and families

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.