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

    Gene ID: 2960, updated on 3-Nov-2024

    Summary

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    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, Nov 2024]
    Expression
    Ubiquitous expression in testis (RPKM 6.1), lymph node (RPKM 3.7) and 25 other tissues See more
    Orthologs
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    Genomic context

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    See GTF2E1 in Genome Data Viewer
    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_000003.12Genomic Context describing neighboring genes Neighboring gene RAB, member of RAS oncogene family like 3 Neighboring gene MT-CO1 pseudogene 29 Neighboring gene MT-CO2 pseudogene 29 Neighboring gene NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr3:120461263-120461901 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 20339 Neighboring gene Sharpr-MPRA regulatory region 15271 Neighboring gene nucleosome assembly protein 1 like 1 pseudogene 3 Neighboring gene long intergenic non-protein coding RNA 2049

    Genomic regions, transcripts, and products

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

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    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Nucleolar TFIIE plays a role in ribosomal biogenesis and performance.
      Title: Nucleolar TFIIE plays a role in ribosomal biogenesis and performance.
    2. MicroRNA 452 regulates GTF2E1 expression in colorectal cancer cells.
      Title: MicroRNA 452 regulates GTF2E1 expression in colorectal cancer cells.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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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    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

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Genotypes

    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

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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
    		  
    involved_in transcription initiation at RNA polymerase II promoter TAS
    Traceable Author Statement
    more info
    		 PubMed 
    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)

    1. 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

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000003.12 Reference GRCh38.p14 Primary Assembly

      Range
      120742744..120783069
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060927.1 Alternate T2T-CHM13v2.0

      Range
      123462622..123502946
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    P29083.2 GenPept UniProtKB/Swiss-Prot:P29083

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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