Gene: E2F1

Basic information

Tag Content
Uniprot ID Q01094; Q13143; Q92768;
Entrez ID 1869
Genbank protein ID AAA35782.1; AAM47604.1; AAB24289.1; AAH58902.1; AAD14150.1; AAH50369.1; AAC50719.1;
Genbank nucleotide ID NM_005225.2
Ensembl protein ID ENSP00000345571
Ensembl nucleotide ID ENSG00000101412
Gene name Transcription factor E2F1
Gene symbol E2F1
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Manually collected
Reference 25045080
Functional description Transcription activator that binds DNA cooperatively with DP proteins through the E2 recognition site, 5'-TTTC[CG]CGC-3' found in the promoter region of a number of genes whose products are involved in cell cycle regulation or in DNA replication. The DRTF1/E2F complex functions in the control of cell-cycle progression from G1 to S phase. E2F1 binds preferentially RB1 in a cell-cycle dependent manner. It can mediate both cell proliferation and TP53/p53-dependent apoptosis. Blocks adipocyte differentiation by binding to specific promoters repressing CEBPA binding to its target gene promoters (PubMed:20176812). Positively regulates transcription of RRP1B (PubMed:20040599).
Sequence
MALAGAPAGG PCAPALEALL GAGALRLLDS SQIVIISAAQ DASAPPAPTG PAAPAAGPCD 60
PDLLLFATPQ APRPTPSAPR PALGRPPVKR RLDLETDHQY LAESSGPARG RGRHPGKGVK 120
SPGEKSRYET SLNLTTKRFL ELLSHSADGV VDLNWAAEVL KVQKRRIYDI TNVLEGIQLI 180
AKKSKNHIQW LGSHTTVGVG GRLEGLTQDL RQLQESEQQL DHLMNICTTQ LRLLSEDTDS 240
QRLAYVTCQD LRSIADPAEQ MVMVIKAPPE TQLQAVDSSE NFQISLKSKQ GPIDVFLCPE 300
ETVGGISPGK TPSQEVTSEE ENRATDSATI VSPPPSSPPS SLTTDPSQSL LSLEQEPLLS 360
RMGSLRAPVD EDRLSPLVAA DSLLEHVRED FSGLLPEEFI SLSPPHEALD YHFGLEEGEG 420
IRDLFDCDFG DLTPLDF 437

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression in different tissues (ENCODE)

  

Protein structural annotations

3D structure in PDB database

Protein disorder information

Orthologous information

Relation Gene symbol Entrez ID UniProt ID Cleft type Developmental stage Species Evidence Details
1:1 orthologE2F1A0A452ESG5Capra hircusPredictionMore>>
1:1 orthologE2F11869Q01094Homo sapiensPublicationMore>>
1:1 orthologE2f113555Q9CYB4E12.5, E13.5, E14.5Mus musculusPredictionMore>>
1:1 orthologE2f1399489O09139Rattus norvegicusPredictionMore>>

Identified variants/mutations related to cleft phenotype

Gene symbol Significant Variants/SNPS Methods PubMed ID
E2F1rs2071054C>TGenotyping25045080

Other genetic variants/mutations

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Disease or phenotype associated information

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Gene Ontology (GO)/biological pathways

GO:Molecular Function

GO ID GO Term Evidence
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificISA
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificISM
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificIMP
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specificIBA
GO:0000987 cis-regulatory region sequence-specific DNA bindingIDA
GO:0001216 DNA-binding transcription activator activityIDA
GO:0003677 DNA bindingIMP
GO:0003677 DNA bindingIDA
GO:0003677 DNA bindingIBA
GO:0003700 DNA-binding transcription factor activityTAS
GO:0003700 DNA-binding transcription factor activityIDA
GO:0003700 DNA-binding transcription factor activityIBA
GO:0005515 protein bindingIPI
GO:0008134 transcription factor bindingIPI
GO:0008134 transcription factor bindingIBA
GO:0019901 protein kinase bindingIEA
GO:0043565 sequence-specific DNA bindingISS
GO:0043565 sequence-specific DNA bindingIBA
GO:0043565 sequence-specific DNA bindingIDA
GO:0046983 protein dimerization activityIEA

GO:Biological Process

GO ID GO Term Evidence
GO:0000077 DNA damage checkpointIMP
GO:0000083 regulation of transcription involved in G1/S transition of mitotic cell cycleTAS
GO:0000122 negative regulation of transcription by RNA polymerase IIIMP
GO:0000122 negative regulation of transcription by RNA polymerase IIIBA
GO:0006351 transcription, DNA-templatedISS
GO:0006355 regulation of transcription, DNA-templatedIDA
GO:0006977 DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrestTAS
GO:0007283 spermatogenesisIEA
GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damageIMP
GO:0010628 positive regulation of gene expressionIDA
GO:0016032 viral processIEA
GO:0030900 forebrain developmentIEA
GO:0043065 positive regulation of apoptotic processIDA
GO:0043276 anoikisIEA
GO:0043392 negative regulation of DNA bindingIDA
GO:0045599 negative regulation of fat cell differentiationISS
GO:0045892 negative regulation of transcription, DNA-templatedIDA
GO:0045892 negative regulation of transcription, DNA-templatedIMP
GO:0045893 positive regulation of transcription, DNA-templatedIMP
GO:0045893 positive regulation of transcription, DNA-templatedIDA
GO:0045944 positive regulation of transcription by RNA polymerase IIIMP
GO:0045944 positive regulation of transcription by RNA polymerase IIIBA
GO:0048146 positive regulation of fibroblast proliferationIMP
GO:0048255 mRNA stabilizationIDA
GO:0051726 regulation of cell cycleIBA
GO:0060252 positive regulation of glial cell proliferationIEA
GO:0070317 negative regulation of G0 to G1 transitionTAS
GO:0070345 negative regulation of fat cell proliferationISS
GO:0071398 cellular response to fatty acidIEA
GO:0071456 cellular response to hypoxiaIEA
GO:0071466 cellular response to xenobiotic stimulusIEA
GO:0071930 negative regulation of transcription involved in G1/S transition of mitotic cell cycleIMP
GO:0072332 intrinsic apoptotic signaling pathway by p53 class mediatorIEA
GO:1900740 positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathwayTAS
GO:1990086 lens fiber cell apoptotic processIEA
GO:1990090 cellular response to nerve growth factor stimulusIEA
GO:2000045 regulation of G1/S transition of mitotic cell cycleIMP

GO:Cellular Component

GO ID GO Term Evidence
GO:0000790 nuclear chromatinISA
GO:0000790 nuclear chromatinIDA
GO:0005634 nucleusIDA
GO:0005634 nucleusIBA
GO:0005654 nucleoplasmIDA
GO:0005654 nucleoplasmTAS
GO:0005739 mitochondrionIEA
GO:0005813 centrosomeIDA
GO:0032991 protein-containing complexIDA
GO:0035189 Rb-E2F complexIDA
GO:0090575 RNA polymerase II transcription factor complexIBA

Reactome Pathway

Reactome ID Reactome Term Evidence
R-HSA-109581 ApoptosisTAS
R-HSA-109606 Intrinsic Pathway for ApoptosisTAS
R-HSA-111448 Activation of NOXA and translocation to mitochondriaTAS
R-HSA-113501 Inhibition of replication initiation of damaged DNA by RB1/E2F1IEA
R-HSA-113510 E2F mediated regulation of DNA replicationIEA
R-HSA-114452 Activation of BH3-only proteinsTAS
R-HSA-1266738 Developmental BiologyIEA
R-HSA-1266738 Developmental BiologyTAS
R-HSA-1362277 Transcription of E2F targets under negative control by DREAM complexTAS
R-HSA-1362277 Transcription of E2F targets under negative control by DREAM complexIEA
R-HSA-1362300 Transcription of E2F targets under negative control by p107 (RBL1) and p130 (RBL2) in complex with HDAC1IEA
R-HSA-139915 Activation of PUMA and translocation to mitochondriaTAS
R-HSA-1538133 G0 and Early G1TAS
R-HSA-1538133 G0 and Early G1IEA
R-HSA-157118 Signaling by NOTCHIEA
R-HSA-157118 Signaling by NOTCHTAS
R-HSA-162582 Signal TransductionIEA
R-HSA-162582 Signal TransductionTAS
R-HSA-1640170 Cell CycleTAS
R-HSA-1640170 Cell CycleIEA
R-HSA-1912408 Pre-NOTCH Transcription and TranslationIEA
R-HSA-1912408 Pre-NOTCH Transcription and TranslationTAS
R-HSA-1912422 Pre-NOTCH Expression and ProcessingIEA
R-HSA-1912422 Pre-NOTCH Expression and ProcessingTAS
R-HSA-212436 Generic Transcription PathwayTAS
R-HSA-2262752 Cellular responses to stressTAS
R-HSA-2559580 Oxidative Stress Induced SenescenceTAS
R-HSA-2559583 Cellular SenescenceTAS
R-HSA-2559585 Oncogene Induced SenescenceTAS
R-HSA-3700989 Transcriptional Regulation by TP53TAS
R-HSA-453274 Mitotic G2-G2/M phasesTAS
R-HSA-453279 Mitotic G1 phase and G1/S transitionTAS
R-HSA-453279 Mitotic G1 phase and G1/S transitionIEA
R-HSA-5357801 Programmed Cell DeathTAS
R-HSA-6791312 TP53 Regulates Transcription of Cell Cycle GenesTAS
R-HSA-6804116 TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle ArrestTAS
R-HSA-68689 CDC6 association with the ORC:origin complexTAS
R-HSA-68867 Assembly of the pre-replicative complexTAS
R-HSA-68911 G2 PhaseTAS
R-HSA-69002 DNA Replication Pre-InitiationTAS
R-HSA-69202 Cyclin E associated events during G1/S transition TAS
R-HSA-69205 G1/S-Specific TranscriptionTAS
R-HSA-69205 G1/S-Specific TranscriptionIEA
R-HSA-69206 G1/S TransitionTAS
R-HSA-69206 G1/S TransitionIEA
R-HSA-69231 Cyclin D associated events in G1TAS
R-HSA-69236 G1 PhaseTAS
R-HSA-69242 S PhaseTAS
R-HSA-69278 Cell Cycle, MitoticTAS
R-HSA-69278 Cell Cycle, MitoticIEA
R-HSA-69306 DNA ReplicationTAS
R-HSA-69656 Cyclin A:Cdk2-associated events at S phase entryTAS
R-HSA-73857 RNA Polymerase II TranscriptionTAS
R-HSA-74160 Gene expression (Transcription)TAS
R-HSA-8953750 Transcriptional Regulation by E2F6TAS
R-HSA-8953897 Cellular responses to external stimuliTAS
R-HSA-9616222 Transcriptional regulation of granulopoiesisIEA
R-HSA-9616222 Transcriptional regulation of granulopoiesisTAS

Drugs and compounds information

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Functional annotations

Keywords

Keyword ID Keyword Term
KW-0002 3D-structure
KW-0007 Acetylation
KW-0010 Activator
KW-0053 Apoptosis
KW-0131 Cell cycle
KW-0238 DNA-binding
KW-0945 Host-virus interaction
KW-0539 Nucleus
KW-0597 Phosphoprotein
KW-0621 Polymorphism
KW-1185 Reference proteome
KW-0804 Transcription
KW-0805 Transcription regulation

Interpro

InterPro ID InterPro Term
IPR015633 E2F
IPR037241 E2F-DP_heterodim
IPR032198 E2F_CC-MB
IPR003316 E2F_WHTH_DNA-bd_dom
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf

PROSITE

PROSITE ID PROSITE Term

Pfam

Pfam ID Pfam Term
PF16421 E2F_CC-MB
PF02319 E2F_TDP

Protein-protein interaction

Protein-miRNA interaction