UniProtKB - Q96AV8 (E2F7_HUMAN)
Transcription factor E2F7
E2F7
Functioni
Atypical E2F transcription factor that participates in various processes such as angiogenesis, polyploidization of specialized cells and DNA damage response. Mainly acts as a transcription repressor that binds DNA independently of DP proteins and specifically recognizes the E2 recognition site 5'-TTTC[CG]CGC-3'. Directly represses transcription of classical E2F transcription factors such as E2F1. Acts as a regulator of S-phase by recognizing and binding the E2-related site 5'-TTCCCGCC-3' and mediating repression of G1/S-regulated genes. Plays a key role in polyploidization of cells in placenta and liver by regulating the endocycle, probably by repressing genes promoting cytokinesis and antagonizing action of classical E2F proteins (E2F1, E2F2 and/or E2F3). Required for placental development by promoting polyploidization of trophoblast giant cells. Also involved in DNA damage response: up-regulated by p53/TP53 following genotoxic stress and acts as a downstream effector of p53/TP53-dependent repression by mediating repression of indirect p53/TP53 target genes involved in DNA replication. Acts as a promoter of sprouting angiogenesis, possibly by acting as a transcription activator: associates with HIF1A, recognizes and binds the VEGFA promoter, which is different from canonical E2 recognition site, and activates expression of the VEGFA gene. Acts as a negative regulator of keratinocyte differentiation.
8 PublicationsRegions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
DNA bindingi | 142 – 211 | Sequence analysisAdd BLAST | 70 | |
DNA bindingi | 282 – 367 | Sequence analysisAdd BLAST | 86 |
GO - Molecular functioni
- cis-regulatory region sequence-specific DNA binding Source: UniProtKB
- DNA-binding transcription factor activity Source: UniProtKB
- DNA-binding transcription factor activity, RNA polymerase II-specific Source: NTNU_SB
- DNA-binding transcription repressor activity Source: UniProtKB
- DNA-binding transcription repressor activity, RNA polymerase II-specific Source: Ensembl
- identical protein binding Source: IntAct
- RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: GO_Central
- sequence-specific double-stranded DNA binding Source: ARUK-UCL
GO - Biological processi
- chorionic trophoblast cell differentiation Source: UniProtKB
- DNA damage response, signal transduction by p53 class mediator Source: UniProtKB
- hepatocyte differentiation Source: UniProtKB
- negative regulation of cell population proliferation Source: UniProtKB
- negative regulation of cytokinesis Source: UniProtKB
- negative regulation of G1/S transition of mitotic cell cycle Source: UniProtKB
- negative regulation of transcription by RNA polymerase II Source: UniProtKB
- negative regulation of transcription involved in G1/S transition of mitotic cell cycle Source: UniProtKB
- placenta development Source: UniProtKB
- positive regulation of DNA endoreduplication Source: UniProtKB
- positive regulation of transcription by RNA polymerase II Source: UniProtKB
- regulation of transcription by RNA polymerase II Source: GO_Central
- sprouting angiogenesis Source: UniProtKB
- trophoblast giant cell differentiation Source: UniProtKB
Keywordsi
Molecular function | Activator, DNA-binding, Repressor |
Biological process | Cell cycle, DNA damage, Transcription, Transcription regulation |
Enzyme and pathway databases
PathwayCommonsi | Q96AV8 |
Reactomei | R-HSA-6804116, TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest |
SignaLinki | Q96AV8 |
Names & Taxonomyi
Protein namesi | Recommended name: Transcription factor E2F7Short name: E2F-7 |
Gene namesi | Name:E2F7 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:23820, E2F7 |
MIMi | 612046, gene |
neXtProti | NX_Q96AV8 |
VEuPathDBi | HostDB:ENSG00000165891 |
Subcellular locationi
Nucleus
- Nucleus 1 Publication
Nucleus
- nuclear speck Source: HPA
- nucleoplasm Source: Reactome
- RNA polymerase II transcription regulator complex Source: GO_Central
Other locations
- chromatin Source: NTNU_SB
Keywords - Cellular componenti
NucleusPathology & Biotechi
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 147 – 148 | LG → EE: Loss of DNA-binding and E2F-dependent repression. 1 Publication | 2 | |
Mutagenesisi | 185 | R → A: Loss of DNA-binding and inhibition of E2F1-dependent activation. Impairs DNA-binding and dimerization; when associated with A-334. 2 Publications | 1 | |
Mutagenesisi | 334 | R → A: Loss of DNA-binding and inhibition of E2F1-dependent activation. Impairs DNA-binding and dimerization; when associated with A-185. 2 Publications | 1 |
Organism-specific databases
DisGeNETi | 144455 |
OpenTargetsi | ENSG00000165891 |
Miscellaneous databases
Pharosi | Q96AV8, Tbio |
Chemistry databases
ChEMBLi | CHEMBL4630726 |
Genetic variation databases
BioMutai | E2F7 |
DMDMi | 311033456 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000298907 | 1 – 911 | Transcription factor E2F7Add BLAST | 911 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Modified residuei | 95 | PhosphoserineCombined sources | 1 | |
Modified residuei | 410 | PhosphoserineCombined sources | 1 | |
Modified residuei | 840 | PhosphoserineCombined sources | 1 |
Keywords - PTMi
PhosphoproteinProteomic databases
EPDi | Q96AV8 |
jPOSTi | Q96AV8 |
MassIVEi | Q96AV8 |
MaxQBi | Q96AV8 |
PaxDbi | Q96AV8 |
PeptideAtlasi | Q96AV8 |
PRIDEi | Q96AV8 |
ProteomicsDBi | 3696 75999 [Q96AV8-1] 76000 [Q96AV8-2] |
PTM databases
iPTMneti | Q96AV8 |
PhosphoSitePlusi | Q96AV8 |
Expressioni
Inductioni
Gene expression databases
Bgeei | ENSG00000165891, Expressed in material anatomical entity and 117 other tissues |
ExpressionAtlasi | Q96AV8, baseline and differential |
Genevisiblei | Q96AV8, HS |
Organism-specific databases
HPAi | ENSG00000165891, Tissue enhanced (bone marrow, lymphoid tissue) |
Interactioni
Subunit structurei
Homodimer and heterodimer: mainly forms homodimers and, to a lesser extent, heterodimers with E2F8. Dimerization is important for DNA-binding.
Interacts with HIF1A.
Interacts with MN1 (PubMed:31839203).
4 PublicationsBinary interactionsi
Q96AV8
With | #Exp. | IntAct |
---|---|---|
itself | 3 | EBI-1386765,EBI-1386765 |
E2F8 [A0AVK6] | 4 | EBI-1386765,EBI-7779316 |
GO - Molecular functioni
- identical protein binding Source: IntAct
Protein-protein interaction databases
BioGRIDi | 126855, 30 interactors |
IntActi | Q96AV8, 8 interactors |
MINTi | Q96AV8 |
STRINGi | 9606.ENSP00000323246 |
Miscellaneous databases
RNActi | Q96AV8, protein |
Family & Domainsi
Region
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Regioni | 254 – 283 | DisorderedSequence analysisAdd BLAST | 30 | |
Regioni | 418 – 438 | DisorderedSequence analysisAdd BLAST | 21 | |
Regioni | 563 – 645 | DisorderedSequence analysisAdd BLAST | 83 | |
Regioni | 672 – 701 | DisorderedSequence analysisAdd BLAST | 30 | |
Regioni | 860 – 911 | DisorderedSequence analysisAdd BLAST | 52 |
Compositional bias
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Compositional biasi | 263 – 283 | Polar residuesSequence analysisAdd BLAST | 21 | |
Compositional biasi | 418 – 436 | Polar residuesSequence analysisAdd BLAST | 19 | |
Compositional biasi | 594 – 618 | Basic and acidic residuesSequence analysisAdd BLAST | 25 | |
Compositional biasi | 672 – 686 | Polar residuesSequence analysisAdd BLAST | 15 |
Domaini
Sequence similaritiesi
Phylogenomic databases
eggNOGi | KOG2578, Eukaryota |
GeneTreei | ENSGT00940000157713 |
InParanoidi | Q96AV8 |
OMAi | EPDCTSA |
OrthoDBi | 145070at2759 |
PhylomeDBi | Q96AV8 |
TreeFami | TF105567 |
Family and domain databases
Gene3Di | 1.10.10.10, 2 hits |
InterProi | View protein in InterPro IPR015633, E2F IPR003316, E2F_WHTH_DNA-bd_dom IPR036388, WH-like_DNA-bd_sf IPR036390, WH_DNA-bd_sf |
PANTHERi | PTHR12081, PTHR12081, 1 hit |
Pfami | View protein in Pfam PF02319, E2F_TDP, 2 hits |
SMARTi | View protein in SMART SM01372, E2F_TDP, 2 hits |
SUPFAMi | SSF46785, SSF46785, 2 hits |
s (3+)i Sequence
Sequence statusi: Complete.
This entry describes 3 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 3 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MEVNCLTLKD LISPRQPRLD FAVEDGENAQ KENIFVDRSR MAPKTPIKNE
60 70 80 90 100
PIDLSKQKKF TPERNPITPV KFVDRQQAEP WTPTANLKML ISAASPDIRD
110 120 130 140 150
REKKKGLFRP IENKDDAFTD SLQLDVVGDS AVDEFEKQRP SRKQKSLGLL
160 170 180 190 200
CQKFLARYPS YPLSTEKTTI SLDEVAVSLG VERRRIYDIV NVLESLHLVS
210 220 230 240 250
RVAKNQYGWH GRHSLPKTLR NLQRLGEEQK YEEQMAYLQQ KELDLIDYKF
260 270 280 290 300
GERKKDGDPD SQEQQLLDFS EPDCPSSSAN SRKDKSLRIM SQKFVMLFLV
310 320 330 340 350
SKTKIVTLDV AAKILIEESQ DAPDHSKFKT KVRRLYDIAN VLTSLALIKK
360 370 380 390 400
VHVTEERGRK PAFKWIGPVD FSSSDEELVD VSASVLPELK RETYGQIQVC
410 420 430 440 450
AKQKLARHGS FNTVQASERI QRKVNSEPSS PYREEQGSGG YSLEIGSLAA
460 470 480 490 500
VYRQKIEDNS QGKAFASKRV VPPSSSLDPV APFPVLSVDP EYCVNPLAHP
510 520 530 540 550
VFSVAQTDLQ AFSMQNGLNG QVDVSLASAA SAVESLKPAL LAGQPLVYVP
560 570 580 590 600
SASLFMLYGS LQEGPASGSG SERDDRSSEA PATVELSSAP SAQKRLCEER
610 620 630 640 650
KPQEEDEPAT KRQSREYEDG PLSLVMPKKP SDSTDLASPK TMGNRASIPL
660 670 680 690 700
KDIHVNGQLP AAEEISGKAT ANSLVSSEWG NPSRNTDVEK PSKENESTKE
710 720 730 740 750
PSLLQYLCVQ SPAGLNGFNV LLSGSQTPPT VGPSSGQLPS FSVPCMVLPS
760 770 780 790 800
PPLGPFPVLY SPAMPGPVSS TLGALPNTGP VNFSLPGLGS IAQLLVGPTA
810 820 830 840 850
VVNPKSSTLP SADPQLQSQP SLNLSPVMSR SHSVVQQPES PVYVGHPVSV
860 870 880 890 900
VKLHQSPVPV TPKSIQRTHR ETFFKTPGSL GDPVLKRRER NQSRNTSSAQ
910
RRLEIPSGGA D
Computationally mapped potential isoform sequencesi
There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketF8VSE7 | F8VSE7_HUMAN | Transcription factor E2F7 | E2F7 | 693 | Annotation score: | ||
H0YHW2 | H0YHW2_HUMAN | Transcription factor E2F7 | E2F7 | 208 | Annotation score: | ||
H0YIF4 | H0YIF4_HUMAN | Transcription factor E2F7 | E2F7 | 219 | Annotation score: | ||
F8VXV5 | F8VXV5_HUMAN | Transcription factor E2F7 | E2F7 | 115 | Annotation score: |
Sequence cautioni
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_034732 | 72 | F → L2 PublicationsCorresponds to variant dbSNP:rs310791Ensembl. | 1 | |
Natural variantiVAR_034733 | 626 | M → V. Corresponds to variant dbSNP:rs3829295Ensembl. | 1 | |
Natural variantiVAR_034734 | 854 | H → Q. Corresponds to variant dbSNP:rs310831Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_027473 | 714 – 845 | GLNGF…PVYVG → VTSSSDPQEHPTHTS in isoform 2. 1 PublicationAdd BLAST | 132 | |
Alternative sequenceiVSP_044617 | 772 – 787 | Missing in isoform 3. 1 PublicationAdd BLAST | 16 | |
Alternative sequenceiVSP_027474 | 846 – 911 | Missing in isoform 2. 1 PublicationAdd BLAST | 66 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC025161 Genomic DNA No translation available. AC079030 Genomic DNA No translation available. BC016658 mRNA Translation: AAH16658.1 BC136366 mRNA Translation: AAI36367.1 BC136367 mRNA Translation: AAI36368.1 BC017481 mRNA No translation available. AK097677 mRNA Translation: BAG53510.1 Frameshift. AK096316 mRNA Translation: BAG53257.1 Different initiation. |
CCDSi | CCDS9016.1 [Q96AV8-1] |
RefSeqi | NP_976328.2, NM_203394.2 [Q96AV8-1] |
Genome annotation databases
Ensembli | ENST00000322886.12; ENSP00000323246.7; ENSG00000165891.16 ENST00000416496.6; ENSP00000393639.2; ENSG00000165891.16 [Q96AV8-2] |
GeneIDi | 144455 |
KEGGi | hsa:144455 |
MANE-Selecti | ENST00000322886.12; ENSP00000323246.7; NM_203394.3; NP_976328.2 |
UCSCi | uc001sym.5, human [Q96AV8-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AC025161 Genomic DNA No translation available. AC079030 Genomic DNA No translation available. BC016658 mRNA Translation: AAH16658.1 BC136366 mRNA Translation: AAI36367.1 BC136367 mRNA Translation: AAI36368.1 BC017481 mRNA No translation available. AK097677 mRNA Translation: BAG53510.1 Frameshift. AK096316 mRNA Translation: BAG53257.1 Different initiation. |
CCDSi | CCDS9016.1 [Q96AV8-1] |
RefSeqi | NP_976328.2, NM_203394.2 [Q96AV8-1] |
3D structure databases
AlphaFoldDBi | Q96AV8 |
SMRi | Q96AV8 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 126855, 30 interactors |
IntActi | Q96AV8, 8 interactors |
MINTi | Q96AV8 |
STRINGi | 9606.ENSP00000323246 |
Chemistry databases
ChEMBLi | CHEMBL4630726 |
PTM databases
iPTMneti | Q96AV8 |
PhosphoSitePlusi | Q96AV8 |
Genetic variation databases
BioMutai | E2F7 |
DMDMi | 311033456 |
Proteomic databases
EPDi | Q96AV8 |
jPOSTi | Q96AV8 |
MassIVEi | Q96AV8 |
MaxQBi | Q96AV8 |
PaxDbi | Q96AV8 |
PeptideAtlasi | Q96AV8 |
PRIDEi | Q96AV8 |
ProteomicsDBi | 3696 75999 [Q96AV8-1] 76000 [Q96AV8-2] |
Protocols and materials databases
Antibodypediai | 29706, 177 antibodies from 32 providers |
DNASUi | 144455 |
Genome annotation databases
Ensembli | ENST00000322886.12; ENSP00000323246.7; ENSG00000165891.16 ENST00000416496.6; ENSP00000393639.2; ENSG00000165891.16 [Q96AV8-2] |
GeneIDi | 144455 |
KEGGi | hsa:144455 |
MANE-Selecti | ENST00000322886.12; ENSP00000323246.7; NM_203394.3; NP_976328.2 |
UCSCi | uc001sym.5, human [Q96AV8-1] |
Organism-specific databases
CTDi | 144455 |
DisGeNETi | 144455 |
GeneCardsi | E2F7 |
HGNCi | HGNC:23820, E2F7 |
HPAi | ENSG00000165891, Tissue enhanced (bone marrow, lymphoid tissue) |
MIMi | 612046, gene |
neXtProti | NX_Q96AV8 |
OpenTargetsi | ENSG00000165891 |
VEuPathDBi | HostDB:ENSG00000165891 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG2578, Eukaryota |
GeneTreei | ENSGT00940000157713 |
InParanoidi | Q96AV8 |
OMAi | EPDCTSA |
OrthoDBi | 145070at2759 |
PhylomeDBi | Q96AV8 |
TreeFami | TF105567 |
Enzyme and pathway databases
PathwayCommonsi | Q96AV8 |
Reactomei | R-HSA-6804116, TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest |
SignaLinki | Q96AV8 |
Miscellaneous databases
BioGRID-ORCSi | 144455, 14 hits in 1109 CRISPR screens |
ChiTaRSi | E2F7, human |
GeneWikii | E2F7 |
GenomeRNAii | 144455 |
Pharosi | Q96AV8, Tbio |
PROi | PR:Q96AV8 |
RNActi | Q96AV8, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000165891, Expressed in material anatomical entity and 117 other tissues |
ExpressionAtlasi | Q96AV8, baseline and differential |
Genevisiblei | Q96AV8, HS |
Family and domain databases
Gene3Di | 1.10.10.10, 2 hits |
InterProi | View protein in InterPro IPR015633, E2F IPR003316, E2F_WHTH_DNA-bd_dom IPR036388, WH-like_DNA-bd_sf IPR036390, WH_DNA-bd_sf |
PANTHERi | PTHR12081, PTHR12081, 1 hit |
Pfami | View protein in Pfam PF02319, E2F_TDP, 2 hits |
SMARTi | View protein in SMART SM01372, E2F_TDP, 2 hits |
SUPFAMi | SSF46785, SSF46785, 2 hits |
MobiDBi | Search... |
Entry informationi
Entry namei | E2F7_HUMAN | |
Accessioni | Q96AV8Primary (citable) accession number: Q96AV8 Secondary accession number(s): A6NC74 B5MED9 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 21, 2007 |
Last sequence update: | November 2, 2010 | |
Last modified: | May 25, 2022 | |
This is version 148 of the entry and version 3 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. |
Miscellaneousi
Keywords - Technical termi
Reference proteomeDocuments
- Human chromosome 12
Human chromosome 12: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families