GTF2E1 general transcription factor IIE subunit 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: GTF2E1provided by HGNC
Official Full Name: general transcription factor IIE subunit 1provided by HGNC
Primary source: HGNC:HGNC:4650
See related: Ensembl:ENSG00000153767 MIM:189962; AllianceGenome:HGNC:4650
Gene type: protein coding
RefSeq status: VALIDATED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: FE; TF2E1; TFIIE-A
Summary: Enables RNA polymerase II general transcription initiation factor activity. Involved in transcription by RNA polymerase II. Located in cytosol and nucleoplasm. Part of transcription factor TFIID complex. [provided by Alliance of Genome Resources, Dec 2024]
Expression: Ubiquitous expression in testis (RPKM 6.1), lymph node (RPKM 3.7) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 3q13.33

Exon count:: 5

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	3	NC_000003.12 (120742744..120783069)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	3	NC_060927.1 (123462622..123502946)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	3	NC_000003.11 (120461591..120501916)

Chromosome 3 - NC_000003.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: Tissue-specific circular RNA induction during human fetal development
Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
BioProject: PRJNA270632
Publication: PMID 26076956
Analysis date: Mon Apr 2 22:54:59 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Nucleolar TFIIE plays a role in ribosomal biogenesis and performance.
Title: Nucleolar TFIIE plays a role in ribosomal biogenesis and performance.
MicroRNA 452 regulates GTF2E1 expression in colorectal cancer cells.
Title: MicroRNA 452 regulates GTF2E1 expression in colorectal cancer cells.
the eWH domain of hTFIIEalpha can replace the first eWH (eWH1) domain of hRPC62 in ATPase and DNA unwinding assays. Our results identify intrinsic enzymatic activities in hRPC62 and hTFIIEalpha.
Title: The hRPC62 subunit of human RNA polymerase III displays helicase activity.
The N-terminal highly acidic region of TFIIEalpha interacts with the pleckstrin homology domain of TFIIH and adopts an extended stringlike structure on the positive groove of the pleckstrin homology domain with two hydrophobic amino acids, Phe387 and Val390, inserting into two shallow hydrophobic pockets of the pleckstrin homology domain.
Title: Dynamics of the Extended String-Like Interaction of TFIIE with the p62 Subunit of TFIIH.
The N-terminal half of TFIIEalpha forms an extended winged helix (WH) domain with an additional helix, followed by a zinc-finger domain. TFIIEbeta contains the WH2 domain, followed by two coiled-coil helices intertwining with TFIIEalpha.
Title: Crystal Structure of Human General Transcription Factor TFIIE at Atomic Resolution.
Association of the winged helix motif of the TFIIEalpha subunit of TFIIE with either the TFIIEbeta subunit or TFIIB distinguishes its functions in transcription.
Title: Association of the winged helix motif of the TFIIEα subunit of TFIIE with either the TFIIEβ subunit or TFIIB distinguishes its functions in transcription.
TFIIE is an alpha/beta heterodimer in solution. A model for the quaternary architecture of the complex is proposed that provides a structural framework to discuss the function of TFIIE in the context of RNA polymerase II transcription initiation.
Title: Structure and oligomeric state of human transcription factor TFIIE.
Observational study of gene-disease association. (HuGE Navigator)
Title: Evaluating new candidate SNPs as low penetrance risk factors in sporadic breast cancer: a two-stage Spanish case-control study.
The specific binding of the C-terminal acidic domain (AC-D) of the human TFIIEalpha subunit to the pleckstrin homology domain (PH-D) of the human TFIIH p62 subunit is demonstrated.
Title: Structural insight into the TFIIE-TFIIH interaction: TFIIE and p53 share the binding region on TFIIH.
interplay between TFIIEalpha and the tumor suppressor protein p53 in regulating transcriptional activation that may be modulated by the phosphorylation status of p53
Title: p53 and TFIIEalpha share a common binding site on the Tfb1/p62 subunit of TFIIH.

Submit: New GeneRIF Correction See all GeneRIFs (11)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of general transcription factor IIE, polypeptide 1, alpha 56kDa (GTF2E1; TFIIE1) by siRNA inhibits HIV-1 replication in CD4+/CCR5+/CXCR4+ TZM-bl HeLa cells	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Tat	tat	HIV-1 Tat interacts with the RNA polymerase II holoenzyme and transcription preinitiation complexes, which include TFIIE, during Tat-mediated transactivation of the HIV-1 LTR	PubMed

Go to the HIV-1, Human Interaction Database

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

D1S1423 (e-PCR)
- UniSTS:149619

SHGC-35449 (e-PCR)
- UniSTS:37237

SHGC-146121 (e-PCR)
- UniSTS:175020

STS-S67859 (e-PCR)
- UniSTS:33240

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables RNA polymerase II general transcription initiation factor activity	IDA Inferred from Direct Assay more info	PubMed
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in transcription by RNA polymerase II	IDA Inferred from Direct Assay more info	PubMed
involved_in transcription initiation at RNA polymerase II promoter	IBA Inferred from Biological aspect of Ancestor more info

Component	Evidence Code	Pubs
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of transcription factor TFIID complex	IDA Inferred from Direct Assay more info	PubMed
part_of transcription factor TFIIE complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: general transcription factor IIE subunit 1

Names: TFIIE alpha subunit; TFIIE-alpha; general transcription factor IIE 56 kDa subunit; general transcription factor IIE, polypeptide 1, alpha 56kDa; transcription initiation factor IIE subunit alpha

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_005513.3 → NP_005504.2 general transcription factor IIE subunit 1

See identical proteins and their annotated locations for NP_005504.2

Status: VALIDATED

Source sequence(s)

AC117472, DA498425, S67859

Consensus CDS

CCDS3002.1

UniProtKB/Swiss-Prot

P29083, Q16103

Related

ENSP00000283875.5, ENST00000283875.6

Conserved Domains (2) summary

smart00531
Location:28 → 175

TFIIE; Transcription initiation factor IIE

pfam11521
Location:394 → 439

TFIIE-A_C; C-terminal general transcription factor TFIIE alpha