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

Gene ID: 1877, updated on 5-Mar-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
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Genomic context

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Location:
16p13.3
Exon count:
14
Annotation release Status Assembly Chr Location
RS_2023_10 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (2223591..2235742)
RS_2023_10 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (2245946..2258191)
105.20220307 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
  • 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. E4F1 silencing inhibits the cell growth through cell-cycle arrest in malignant transformed cells induced by hydroquinone. Tan Q, et al. J Biochem Mol Toxicol, 2019 Apr. PMID 30506647
  3. New genes and pathomechanisms in mitochondrial disorders unraveled by NGS technologies. Legati A, et al. Biochim Biophys Acta, 2016 Aug. PMID 26968897
  4. Downregulation of transcription factor E4F1 in hepatocarcinoma cells: HBV-dependent effects on autophagy, proliferation and metabolism. Dai Y, et al. Carcinogenesis, 2014 Mar. PMID 24163401
  5. Interaction of the hepatitis B virus protein HBx with the human transcription regulatory protein p120E4F in vitro. Rui E, et al. Virus Res, 2006 Jan. PMID 16112766

See all (41) 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 cycle 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_2023_10

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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