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    E4F1 E4F transcription factor 1 [ Homo sapiens (human) ]

    Gene ID: 1877, updated on 2-Nov-2024

    Summary

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    Official Symbol
    E4F1provided by HGNC
    Official Full Name
    E4F transcription factor 1provided by HGNC
    Primary source
    HGNC:HGNC:3121
    See related
    Ensembl:ENSG00000167967 MIM:603022; AllianceGenome:HGNC:3121
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    E4F
    Summary
    The zinc finger protein encoded by this gene is one of several cellular transcription factors whose DNA-binding activities are regulated through the action of adenovirus E1A. A 50-kDa amino-terminal product is generated from the full-length protein through proteolytic cleavage. The protein is differentially regulated by E1A-induced phosphorylation. The full-length gene product represses transcription from the E4 promoter in the absence of E1A, while the 50-kDa form acts as a transcriptional activator in its presence. Alternative splicing results in multiple transcripts encoding different proteins. [provided by RefSeq, Jan 2014]
    Expression
    Ubiquitous expression in spleen (RPKM 6.6), prostate (RPKM 5.8) and 25 other tissues See more
    Orthologs
    mouse all
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    Genomic context

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    See E4F1 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (2223591..2235742)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (2245946..2258191)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (2273592..2285743)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene MTOR associated protein, LST8 homolog Neighboring gene ReSE screen-validated silencer GRCh37_chr16:2260119-2260309 Neighboring gene H3K4me1 hESC enhancers GRCh37_chr16:2261749-2262562 and GRCh37_chr16:2262563-2263376 Neighboring gene BRICHOS domain containing 5 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10258 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7035 Neighboring gene Sharpr-MPRA regulatory region 5944 Neighboring gene phosphoglycolate phosphatase Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:2269932-2270556 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7037 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10259 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7038 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10260 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:2275282-2275782 Neighboring gene deoxyribonuclease 1 like 2 Neighboring gene ECI1 antisense RNA 1 Neighboring gene enoyl-CoA delta isomerase 1

    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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    Related articles in PubMed

    1. Multi-Level Control of the ATM/ATR-CHK1 Axis by the Transcription Factor E4F1 in Triple-Negative Breast Cancer. Batnini K, et al. Int J Mol Sci, 2022 Aug 16. PMID 36012478, Free PMC Article
    2. Transcription factor E4F1 as a regulator of cell life and disease progression. Sun S, et al. Sci Adv, 2023 Sep 29. PMID 37774036, Free PMC Article
    3. The adenovirus E1A-regulated transcription factor E4F is generated from the human homolog of nuclear factor phiAP3. Fernandes ER, et al. Mol Cell Biol, 1997 Apr. PMID 9121437, Free PMC Article
    4. Assignment of the E1A-regulated transcription factor E4F gene (E4F1) to human chromosome band 16p13.3 by in situ hybridization and somatic cell hybrids. Saccone S, et al. Cytogenet Cell Genet, 1998. PMID 9763670
    5. E4F1, a novel estrogen-responsive gene in possible atheroprotection, revealed by microarray analysis. Nakamura Y, et al. Am J Pathol, 2004 Dec. PMID 15579445, Free PMC Article

    See all (42) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Transcription factor E4F1 as a regulator of cell life and disease progression.
      Title: Transcription factor E4F1 as a regulator of cell life and disease progression.
    2. Multi-Level Control of the ATM/ATR-CHK1 Axis by the Transcription Factor E4F1 in Triple-Negative Breast Cancer.
      Title: Multi-Level Control of the ATM/ATR-CHK1 Axis by the Transcription Factor E4F1 in Triple-Negative Breast Cancer.
    3. The multifunctional protein E4F1 links P53 to lipid metabolism in adipocytes.
      Title: The multifunctional protein E4F1 links P53 to lipid metabolism in adipocytes.
    4. Zinc finger protein E4F1 cooperates with PARP-1 and BRG1 to promote DNA double-strand break repair.
      Title: Zinc finger protein E4F1 cooperates with PARP-1 and BRG1 to promote DNA double-strand break repair.
    5. E4F1 silencing inhibits the cell growth through cell-cycle arrest in malignant transformed cells induced by hydroquinone
      Title: E4F1 silencing inhibits the cell growth through cell-cycle arrest in malignant transformed cells induced by hydroquinone.
    6. Whole exome sequencing has unraveled the presence of pathogenic mutations in genes encoding non-mitochondrial proteins, such as in the transcription factor E4F1.
      Title: New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies.
    7. results suggest that E4F1 may neutralize the capacity of HBx to activate a p53-dependent, metabolic and growth arrest phenotype in liver cells, thus possibly contributing to the viability and proliferation of HBV-infected cells
      Title: Downregulation of transcription factor E4F1 in hepatocarcinoma cells: HBV-dependent effects on autophagy, proliferation and metabolism.
    8. Short hairpin RNA-mediated depletion of E4F1 induced mitochondrial defects and ROS-mediated death in several myeloid leukemia cell lines.
      Title: E4F1 deficiency results in oxidative stress-mediated cell death of leukemic cells.
    9. LANP and ATAXN1 interact in E4F-mediated transcriptional repression.
      Title: The role of LANP and ataxin 1 in E4F-mediated transcriptional repression.
    10. Specific inactivation of RASSF1A by short interfering RNA disrupts binding of RASSF1A to p120(E4F) in tumor cells.
      Title: Identification of the E1A-regulated transcription factor p120 E4F as an interacting partner of the RASSF1A candidate tumor suppressor gene.
    Submit: New GeneRIF Correction See all GeneRIFs (14)

    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

    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

    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

    Clone Names

    • MGC99614

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    enables DNA-binding transcription activator activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables DNA-binding transcription factor activity IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables DNA-binding transcription repressor activity, RNA polymerase II-specific IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II cis-regulatory region sequence-specific DNA binding IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    enables RNA polymerase II transcription regulatory region sequence-specific DNA binding IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    enables RNA polymerase II-specific DNA-binding transcription factor binding IPI
    Inferred from Physical Interaction
    more info
    		 PubMed 
    enables cAMP response element binding 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 
    enables transferase activity IEA
    Inferred from Electronic Annotation
    more info
    		  
    Process Evidence Code Pubs
    involved_in DNA replication IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in cell division IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in negative regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in protein ubiquitination IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of cell cycle TAS
    Traceable Author Statement
    more info
    		 PubMed 
    involved_in regulation of cell cycle process IDA
    Inferred from Direct Assay
    more info
    		 PubMed 
    involved_in regulation of mitotic cell cycle, embryonic IEA
    Inferred from Electronic Annotation
    more info
    		  
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
    		  
    Component Evidence Code Pubs
    located_in cytoplasm IEA
    Inferred from Electronic Annotation
    more info
    		  
    located_in nuclear body IDA
    Inferred from Direct Assay
    more info
    		  
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
    		  
    located_in spindle IEA
    Inferred from Electronic Annotation
    more info
    		  

    General protein information

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    Preferred Names
    transcription factor E4F1
    Names
    RING-type E3 ubiquitin transferase E4F1
    p120E4F
    p50E4F
    putative E3 ubiquitin-protein ligase E4F1
    transcription factor E4F
    NP_001275705.2
    NP_001275707.2
    NP_004415.4
    XP_005255212.1
    XP_005255213.1
    XP_006720921.1
    XP_011520704.1
    XP_016878499.1
    XP_047289652.1
    XP_047289653.1
    XP_047289654.1
    XP_047289655.1
    XP_054235707.1
    XP_054235708.1
    XP_054235709.1
    XP_054235710.1
    XP_054235711.1
    XP_054235712.1
    XP_054235713.1
    XP_054235714.1
    XP_054235715.1

    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_001288776.2 → NP_001275705.2  transcription factor E4F1 isoform 2

      Status: REVIEWED

      Description
      Transcript Variant: This variant (2) uses an alternate splice site in the 3' coding region that results in a frameshift compared to variant 1. The encoded protein (isoform 2) has a shorter and distinct C-terminus compared to isoform 1.
      Source sequence(s)
      AC009065
      Consensus CDS
      CCDS73810.1
      UniProtKB/TrEMBL
      H3BUJ7
      Related
      ENSP00000457672.1, ENST00000564139.5
      Conserved Domains (2) summary
      COG5048
      Location:183 → 595
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:521 → 541
      ZF_C2H2; C2H2 Zn finger [structural motif]

    2. NM_001288778.2 → NP_001275707.2  transcription factor E4F1 isoform 3

      Status: REVIEWED

      Description
      Transcript Variant: This variant (3) lacks two alternate in-frame exons and has two alternate in-frame splice sites in the 3' coding region, compared to variant 1. The encoded protein (isoform 3) is shorter compared to isoform 1.
      Source sequence(s)
      AC009065
      Consensus CDS
      CCDS73809.1
      UniProtKB/TrEMBL
      H3BSL4
      Related
      ENSP00000456760.1, ENST00000565090.5
      Conserved Domains (5) summary
      COG5189
      Location:114 → 268
      SFP1; Putative transcriptional repressor regulating G2/M transition [Transcription / Cell division and chromosome partitioning]
      sd00017
      Location:194 → 214
      ZF_C2H2; C2H2 Zn finger [structural motif]
      sd00019
      Location:373 → 389
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:220 → 242
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:384 → 408
      zf-H2C2_2; Zinc-finger double domain

    3. NM_004424.5 → NP_004415.4  transcription factor E4F1 isoform 1

      Status: REVIEWED

      Description
      Transcript Variant: This variant (1) represents the longest transcript and encodes the longest protein (isoform 1).
      Source sequence(s)
      AC009065
      Consensus CDS
      CCDS32370.1
      UniProtKB/Swiss-Prot
      A8K2R4, O00146, Q66K89
      Related
      ENSP00000301727.4, ENST00000301727.9
      Conserved Domains (2) summary
      COG5048
      Location:183 → 595
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:521 → 541
      ZF_C2H2; C2H2 Zn finger [structural motif]

    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_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      2223591..2235742
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005255155.2 → XP_005255212.1  transcription factor E4F1 isoform X1

      Conserved Domains (5) summary
      COG5048
      Location:236 → 648
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:574 → 594
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:273 → 295
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:614 → 638
      zf-H2C2_2; Zinc-finger double domain
      cl19237
      Location:506 → 585
      DUF45; Protein of unknown function DUF45

    2. XM_011522402.2 → XP_011520704.1  transcription factor E4F1 isoform X3

      Conserved Domains (5) summary
      COG5048
      Location:236 → 648
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:574 → 594
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:273 → 295
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:614 → 638
      zf-H2C2_2; Zinc-finger double domain
      cl19237
      Location:506 → 585
      DUF45; Protein of unknown function DUF45

    3. XM_005255156.2 → XP_005255213.1  transcription factor E4F1 isoform X2

      Conserved Domains (5) summary
      COG5048
      Location:236 → 647
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:573 → 593
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:273 → 295
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:613 → 637
      zf-H2C2_2; Zinc-finger double domain
      cl19237
      Location:505 → 584
      DUF45; Protein of unknown function DUF45

    4. XM_017023010.2 → XP_016878499.1  transcription factor E4F1 isoform X4

    5. XM_047433696.1 → XP_047289652.1  transcription factor E4F1 isoform X6

    6. XM_006720858.2 → XP_006720921.1  transcription factor E4F1 isoform X5

      Conserved Domains (5) summary
      COG5048
      Location:183 → 594
      COG5048; FOG: Zn-finger [General function prediction only]
      sd00017
      Location:520 → 540
      ZF_C2H2; C2H2 Zn finger [structural motif]
      pfam00096
      Location:220 → 242
      zf-C2H2; Zinc finger, C2H2 type
      pfam13465
      Location:560 → 584
      zf-H2C2_2; Zinc-finger double domain
      cl19237
      Location:452 → 531
      DUF45; Protein of unknown function DUF45

    7. XM_047433697.1 → XP_047289653.1  transcription factor E4F1 isoform X7

    8. XM_047433698.1 → XP_047289654.1  transcription factor E4F1 isoform X8

    9. XM_047433699.1 → XP_047289655.1  transcription factor E4F1 isoform X9

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      2245946..2258191
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054379732.1 → XP_054235707.1  transcription factor E4F1 isoform X1

    2. XM_054379734.1 → XP_054235709.1  transcription factor E4F1 isoform X3

    3. XM_054379733.1 → XP_054235708.1  transcription factor E4F1 isoform X2

    4. XM_054379735.1 → XP_054235710.1  transcription factor E4F1 isoform X4

    5. XM_054379739.1 → XP_054235714.1  transcription factor E4F1 isoform X8

    6. XM_054379740.1 → XP_054235715.1  transcription factor E4F1 isoform X9

    7. XM_054379737.1 → XP_054235712.1  transcription factor E4F1 isoform X6

    8. XM_054379736.1 → XP_054235711.1  transcription factor E4F1 isoform X5

    9. XM_054379738.1 → XP_054235713.1  transcription factor E4F1 isoform X7

    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    Q66K89.2 GenPept UniProtKB/Swiss-Prot:Q66K89

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