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Protein

Transcription initiation factor IIE subunit beta

Gene

GTF2E2

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

Functioni

Recruits TFIIH to the initiation complex and stimulates the RNA polymerase II C-terminal domain kinase and DNA-dependent ATPase activities of TFIIH. Both TFIIH and TFIIE are required for promoter clearance by RNA polymerase.2 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi66 – 146TFIIE betaPROSITE-ProRule annotationAdd BLAST81

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionDNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-167161 HIV Transcription Initiation
R-HSA-167162 RNA Polymerase II HIV Promoter Escape
R-HSA-167172 Transcription of the HIV genome
R-HSA-674695 RNA Polymerase II Pre-transcription Events
R-HSA-6807505 RNA polymerase II transcribes snRNA genes
R-HSA-73776 RNA Polymerase II Promoter Escape
R-HSA-73779 RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
R-HSA-75953 RNA Polymerase II Transcription Initiation
R-HSA-76042 RNA Polymerase II Transcription Initiation And Promoter Clearance

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription initiation factor IIE subunit beta
Short name:
TFIIE-beta
Alternative name(s):
General transcription factor IIE subunit 2
Gene namesi
Name:GTF2E2
Synonyms:TF2E2
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 8

Organism-specific databases

EuPathDBiHostDB:ENSG00000197265.8
HGNCiHGNC:4651 GTF2E2
MIMi189964 gene
neXtProtiNX_P29084

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Involvement in diseasei

Trichothiodystrophy 6, non-photosensitive (TTD6)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of trichothiodystrophy, a disease characterized by sulfur-deficient brittle hair and multisystem variable abnormalities. The spectrum of clinical features varies from mild disease with only hair involvement to severe disease with cutaneous, neurologic and profound developmental defects. Ichthyosis, intellectual and developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections are common manifestations. There are both photosensitive and non-photosensitive forms of the disorder. TTD6 patients do not manifest cutaneous photosensitivity. Inheritance pattern has been reported to be autosomal recessive.
See also OMIM:616943
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_076893150A → P in TTD6; reduction in the levels of both TFIIE-alpha and TFIIE-beta subunits of the TFIIE complex in patient cells; reduced phosphorylation of TFIIE-alpha observed in patient cells. 1 PublicationCorresponds to variant dbSNP:rs875989846EnsemblClinVar.1
Natural variantiVAR_076894187D → Y in TTD6; reduction in the levels of both TFIIE-alpha and TFIIE-beta subunits of the TFIIE complex in patient cells; reduced phosphorylation of TFIIE-alpha observed in patient cells. 1 PublicationCorresponds to variant dbSNP:rs875989847EnsemblClinVar.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi2961
MalaCardsiGTF2E2
MIMi616943 phenotype
OpenTargetsiENSG00000197265
PharmGKBiPA29037

Polymorphism and mutation databases

BioMutaiGTF2E2
DMDMi135232

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002112261 – 291Transcription initiation factor IIE subunit betaAdd BLAST291

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei1N-acetylmethionineCombined sources1
Modified residuei61PhosphoserineCombined sources1
Modified residuei74N6-acetyllysineBy similarity1

Keywords - PTMi

Acetylation, Phosphoprotein

Proteomic databases

EPDiP29084
MaxQBiP29084
PaxDbiP29084
PeptideAtlasiP29084
PRIDEiP29084

PTM databases

iPTMnetiP29084
PhosphoSitePlusiP29084

Expressioni

Gene expression databases

BgeeiENSG00000197265
CleanExiHS_GTF2E2
ExpressionAtlasiP29084 baseline and differential
GenevisibleiP29084 HS

Organism-specific databases

HPAiCAB009603
HPA004816
HPA025065

Interactioni

Subunit structurei

Tetramer of two alpha and two beta chains. Interacts with FACT subunit SUPT16H. Interacts with ATF7IP.2 Publications

Binary interactionsi

Show more details

Protein-protein interaction databases

BioGridi109216, 120 interactors
CORUMiP29084
DIPiDIP-716N
IntActiP29084, 11 interactors
MINTiP29084
STRINGi9606.ENSP00000348168

Structurei

Secondary structure

1291
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Helixi67 – 70Combined sources4
Helixi75 – 91Combined sources17
Helixi99 – 106Combined sources8
Beta strandi109 – 111Combined sources3
Helixi113 – 120Combined sources8
Helixi123 – 126Combined sources4
Beta strandi130 – 132Combined sources3
Beta strandi134 – 139Combined sources6
Turni142 – 144Combined sources3
Helixi148 – 161Combined sources14
Helixi168 – 174Combined sources7
Helixi178 – 184Combined sources7
Helixi186 – 188Combined sources3
Beta strandi189 – 193Combined sources5
Beta strandi199 – 203Combined sources5
Helixi214 – 221Combined sources8
Helixi230 – 240Combined sources11

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB entryMethodResolution (Å)ChainPositionsPDBsum
1D8JNMR-A66-146[»]
1D8KNMR-A66-146[»]
5GPYX-ray2.10B141-244[»]
5IY6electron microscopy7.20R1-291[»]
5IY7electron microscopy8.60R1-291[»]
5IY8electron microscopy7.90R1-291[»]
5IY9electron microscopy6.30R1-291[»]
5IYAelectron microscopy5.40R1-291[»]
5IYBelectron microscopy3.90R1-291[»]
5IYCelectron microscopy3.90R1-291[»]
5IYDelectron microscopy3.90R1-291[»]
ProteinModelPortaliP29084
SMRiP29084
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP29084

Family & Domainsi

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi26 – 36Poly-SerAdd BLAST11
Compositional biasi37 – 42Lys-rich (basic)6
Compositional biasi251 – 271Arg/Lys-rich (basic)Add BLAST21

Sequence similaritiesi

Belongs to the TFIIE beta subunit family.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiKOG3095 Eukaryota
COG5174 LUCA
GeneTreeiENSGT00390000011749
HOGENOMiHOG000008149
HOVERGENiHBG009400
InParanoidiP29084
KOiK03137
OMAiETYEDNT
OrthoDBiEOG091G0HXJ
PhylomeDBiP29084
TreeFamiTF105901

Family and domain databases

CDDicd07977 TFIIE_beta_winged_helix, 1 hit
Gene3Di1.10.10.10, 1 hit
InterProiView protein in InterPro
IPR016656 TFIIE-bsu
IPR003166 TFIIE_bsu_DNA-bd
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PfamiView protein in Pfam
PF02186 TFIIE_beta, 1 hit
PIRSFiPIRSF016398 TFIIE-beta, 1 hit
SUPFAMiSSF46785 SSF46785, 1 hit
PROSITEiView protein in PROSITE
PS51351 TFIIE_BETA_C, 1 hit

Sequencei

Sequence statusi: Complete.

P29084-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MDPSLLRERE LFKKRALSTP VVEKRSASSE SSSSSSKKKK TKVEHGGSSG
60 70 80 90 100
SKQNSDHSNG SFNLKALSGS SGYKFGVLAK IVNYMKTRHQ RGDTHPLTLD
110 120 130 140 150
EILDETQHLD IGLKQKQWLM TEALVNNPKI EVIDGKYAFK PKYNVRDKKA
160 170 180 190 200
LLRLLDQHDQ RGLGGILLED IEEALPNSQK AVKALGDQIL FVNRPDKKKI
210 220 230 240 250
LFFNDKSCQF SVDEEFQKLW RSVTVDSMDE EKIEEYLKRQ GISSMQESGP
260 270 280 290
KKVAPIQRRK KPASQKKRRF KTHNEHLAGV LKDYSDITSS K
Length:291
Mass (Da):33,044
Last modified:December 1, 1992 - v1
Checksum:i20F6BDFF2E06E5E7
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti53Q → E in AAG39077 (Ref. 3) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_052281133I → T. Corresponds to variant dbSNP:rs2229299Ensembl.1
Natural variantiVAR_076893150A → P in TTD6; reduction in the levels of both TFIIE-alpha and TFIIE-beta subunits of the TFIIE complex in patient cells; reduced phosphorylation of TFIIE-alpha observed in patient cells. 1 PublicationCorresponds to variant dbSNP:rs875989846EnsemblClinVar.1
Natural variantiVAR_039003183K → R. Corresponds to variant dbSNP:rs2978277Ensembl.1
Natural variantiVAR_076894187D → Y in TTD6; reduction in the levels of both TFIIE-alpha and TFIIE-beta subunits of the TFIIE complex in patient cells; reduced phosphorylation of TFIIE-alpha observed in patient cells. 1 PublicationCorresponds to variant dbSNP:rs875989847EnsemblClinVar.1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
S67861 mRNA Translation: AAB20414.1
X63469 mRNA Translation: CAA45069.1
AF292062
, AF292056, AF292057, AF292058, AF292059, AF292060, AF292061 Genomic DNA Translation: AAG39077.1
CH471080 Genomic DNA Translation: EAW63446.1
CH471080 Genomic DNA Translation: EAW63449.1
BC030572 mRNA Translation: AAH30572.1
CCDSiCCDS6078.1
PIRiS29292
RefSeqiNP_002086.1, NM_002095.5
XP_016868852.1, XM_017013363.1
XP_016868853.1, XM_017013364.1
UniGeneiHs.77100

Genome annotation databases

EnsembliENST00000355904; ENSP00000348168; ENSG00000197265
GeneIDi2961
KEGGihsa:2961
UCSCiuc003xig.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Entry informationi

Entry nameiT2EB_HUMAN
AccessioniPrimary (citable) accession number: P29084
Secondary accession number(s): D3DSV2, Q9H2B9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: December 1, 1992
Last sequence update: December 1, 1992
Last modified: May 23, 2018
This is version 178 of the entry and version 1 of the sequence. See 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, Direct protein sequencing, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: 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

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