E2F1 E2F transcription factor 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: E2F1provided by HGNC
Official Full Name: E2F transcription factor 1provided by HGNC
Primary source: HGNC:HGNC:3113
See related: Ensembl:ENSG00000101412 MIM:189971; AllianceGenome:HGNC:3113
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: RBP3; E2F-1; RBAP1; RBBP3
Summary: The protein encoded by this gene is a member of the E2F family of transcription factors. The E2F family plays a crucial role in the control of cell cycle and action of tumor suppressor proteins and is also a target of the transforming proteins of small DNA tumor viruses. The E2F proteins contain several evolutionally conserved domains found in most members of the family. These domains include a DNA binding domain, a dimerization domain which determines interaction with the differentiation regulated transcription factor proteins (DP), a transactivation domain enriched in acidic amino acids, and a tumor suppressor protein association domain which is embedded within the transactivation domain. This protein and another 2 members, E2F2 and E2F3, have an additional cyclin binding domain. This protein binds preferentially to retinoblastoma protein pRB in a cell-cycle dependent manner. It can mediate both cell proliferation and p53-dependent/independent apoptosis. [provided by RefSeq, Jul 2008]
Expression: Broad expression in bone marrow (RPKM 12.7), testis (RPKM 5.6) and 17 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 20q11.22

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	20	NC_000020.11 (33675477..33686385, complement)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	20	NC_060944.1 (35402008..35412916, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	20	NC_000020.10 (32263283..32274191, complement)

Chromosome 20 - NC_000020.11 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: 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?

LncRNA HAGLR regulates gastric cancer progression by regulating the miR-20a-5p/E2F1 axis.
Title: LncRNA HAGLR regulates gastric cancer progression by regulating the miR-20a-5p/E2F1 axis.
ARHGEF39 targeted by E2F1 fosters hepatocellular carcinoma metastasis by mediating fatty acid metabolism.
Title: ARHGEF39 targeted by E2F1 fosters hepatocellular carcinoma metastasis by mediating fatty acid metabolism.
DNMT1-Mediated the Downregulation of FOXF1 Promotes High Glucose-induced Podocyte Damage by Regulating the miR-342-3p/E2F1 Axis.
Title: DNMT1-Mediated the Downregulation of FOXF1 Promotes High Glucose-induced Podocyte Damage by Regulating the miR-342-3p/E2F1 Axis.
CircMYBL2 facilitates hepatocellular carcinoma progression by regulating E2F1 expression.
Title: CircMYBL2 facilitates hepatocellular carcinoma progression by regulating E2F1 expression.
LncRNA SNHG6 promotes G1/S-phase transition in hepatocellular carcinoma by impairing miR-204-5p-mediated inhibition of E2F1.
Title: LncRNA SNHG6 promotes G1/S-phase transition in hepatocellular carcinoma by impairing miR-204-5p-mediated inhibition of E2F1.
Epigenetically associated IGF2BP3 upregulation promotes cell proliferation by regulating E2F1 expression in hepatocellular carcinoma.
Title: Epigenetically associated IGF2BP3 upregulation promotes cell proliferation by regulating E2F1 expression in hepatocellular carcinoma.
CDCA5 accelerates progression of breast cancer by promoting the binding of E2F1 and FOXM1.
Title: CDCA5 accelerates progression of breast cancer by promoting the binding of E2F1 and FOXM1.
Analysis of E2F1 single-nucleotide polymorphisms reveals deleterious non-synonymous substitutions that disrupt E2F1-RB protein interaction in cancer.
Title: Analysis of E2F1 single-nucleotide polymorphisms reveals deleterious non-synonymous substitutions that disrupt E2F1-RB protein interaction in cancer.
New link between RNH1 and E2F1: regulates the development of lung adenocarcinoma.
Title: New link between RNH1 and E2F1: regulates the development of lung adenocarcinoma.
E2F1 induced neuroblastoma cell migration and invasion via activation of CENPE/FOXM1 signaling pathway.
Title: E2F1 induced neuroblastoma cell migration and invasion via activation of CENPE/FOXM1 signaling pathway.

Submit: New GeneRIF Correction See all GeneRIFs (716)

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)

HIV-1 interactions

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Replication interactions

Interaction	Pubs
Knockdown of E2F transcription factor 1 (E2F1) by siRNA enhances the early stages of HIV-1 replication in HeLa-CD4 cells infected with viral pseudotypes HIV89.6R and HIV8.2N	PubMed

Protein interactions

Protein	Gene	Interaction	Pubs
Envelope surface glycoprotein gp120	env	Transcription factor E2F1 is necessary for neuronal cell death induced by HIV-1 gp120 via neuronal CXCR4	PubMed
	env	In cultured neurons, HIV-1 gp120 increases transcription factor E2F1 levels in the nucleus, stimulates its transcriptional activity, and enhances the expression of the E2F1 target proteins Cdc2 and Puma	PubMed
Tat	tat	The under-phosphorylated form of Rb that is prevalent in HIV-1 Tat treated glial cells activates HIV-1 transcription, likely through promoting the interaction of Rb with E2F-1 and preventing the inhibition of Tat function associated with E2F-1	PubMed
	tat	E2F1 has the ability to suppress basal transcriptional activity of the HIV-1 LTR and to diminish the extent of the Tat-induced activation of this viral promoter	PubMed

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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

PMC85083P1 (e-PCR)
- UniSTS:273463

PMC344741P1 (e-PCR)
- UniSTS:273209

PMC303366P5 (e-PCR)
- UniSTS:272512

RH78379 (e-PCR)
- UniSTS:57989

RH80228 (e-PCR)
- UniSTS:84627

NoName (e-PCR)
- UniSTS:481688

PMC126057P4 (e-PCR)
- UniSTS:270525

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables DNA binding	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription activator activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity	TAS Traceable Author Statement more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IMP Inferred from Mutant Phenotype more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription factor binding	IPI Inferred from Physical Interaction more info	PubMed
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables cis-regulatory region sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables molecular adaptor activity	EXP Inferred from Experiment more info	PubMed
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables protein dimerization activity	IEA Inferred from Electronic Annotation more info
enables sequence-specific DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed

Process	Evidence Code	Pubs
involved_in DNA damage checkpoint signaling	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in DNA-templated transcription	ISS Inferred from Sequence or Structural Similarity more info
involved_in anoikis	IEA Inferred from Electronic Annotation more info
involved_in cellular response to xenobiotic stimulus	IEA Inferred from Electronic Annotation more info
involved_in forebrain development	IEA Inferred from Electronic Annotation more info
involved_in intrinsic apoptotic signaling pathway by p53 class mediator	IEA Inferred from Electronic Annotation more info
involved_in intrinsic apoptotic signaling pathway in response to DNA damage	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in lens fiber cell apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in mRNA stabilization	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA binding	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of fat cell differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of fat cell proliferation	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of DNA-templated transcription	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of apoptotic process	IDA Inferred from Direct Assay more info	PubMed
involved_in positive regulation of fibroblast proliferation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in positive regulation of gene expression	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 positive regulation of transcription by RNA polymerase II	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
acts_upstream_of regulation of G1/S transition of mitotic cell cycle	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in response to lipopolysaccharide	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription regulator complex	IPI Inferred from Physical Interaction more info	PubMed
part_of Rb-E2F complex	IBA Inferred from Biological aspect of Ancestor more info
part_of Rb-E2F complex	IDA Inferred from Direct Assay more info	PubMed
part_of Rb-E2F complex	IPI Inferred from Physical Interaction more info	PubMed
located_in centrosome	IDA Inferred from Direct Assay more info
located_in chromatin	IDA Inferred from Direct Assay more info	PubMed
located_in chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
is_active_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
part_of protein-containing complex	IDA Inferred from Direct Assay more info	PubMed

General protein information

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Preferred Names: transcription factor E2F1

Names: PBR3; PRB-binding protein E2F-1; RBAP-1; RBBP-3; retinoblastoma-associated protein 1; retinoblastoma-binding protein 3; retinoblastoma-binding protein 3 (E2F-like)

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.

Genomic

NG_046988.1 RefSeqGene

Range

5020..15928

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_005225.3 → NP_005216.1 transcription factor E2F1

See identical proteins and their annotated locations for NP_005216.1

Status: REVIEWED

Source sequence(s)

AL121906, BC005098, BC050369

Consensus CDS

CCDS13224.1

UniProtKB/Swiss-Prot

Q01094, Q13143, Q92768

Related

ENSP00000345571.5, ENST00000343380.6

Conserved Domains (2) summary

cd14660
Location:202 → 301

E2F_DD; Dimerization domain of E2F transcription factors

pfam02319
Location:129 → 192

E2F_TDP; E2F/DP family winged-helix DNA-binding domain