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Protein

Transcription factor E2F7

Gene

E2F7

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

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 Publications

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
DNA bindingi142 – 211Sequence analysisAdd BLAST70
DNA bindingi282 – 367Sequence analysisAdd BLAST86

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, DNA-binding, Repressor
Biological processCell cycle, DNA damage, Transcription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-6804116 TP53 Regulates Transcription of Genes Involved in G1 Cell Cycle Arrest

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor E2F7
Short name:
E2F-7
Gene namesi
Name:E2F7
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 12

Organism-specific databases

EuPathDBiHostDB:ENSG00000165891.15
HGNCiHGNC:23820 E2F7
MIMi612046 gene
neXtProtiNX_Q96AV8

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Mutagenesisi147 – 148LG → EE: Loss of DNA-binding and E2F-dependent repression. 1 Publication2
Mutagenesisi185R → A: Loss of DNA-binding and inhibition of E2F1-dependent activation. Impairs DNA-binding and dimerization; when associated with A-334. 2 Publications1
Mutagenesisi334R → A: Loss of DNA-binding and inhibition of E2F1-dependent activation. Impairs DNA-binding and dimerization; when associated with A-185. 2 Publications1

Organism-specific databases

DisGeNETi144455
OpenTargetsiENSG00000165891

Polymorphism and mutation databases

BioMutaiE2F7
DMDMi311033456

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00002989071 – 911Transcription factor E2F7Add BLAST911

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei95PhosphoserineCombined sources1
Modified residuei410PhosphoserineCombined sources1
Modified residuei840PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

MaxQBiQ96AV8
PaxDbiQ96AV8
PeptideAtlasiQ96AV8
PRIDEiQ96AV8
ProteomicsDBi75999
76000 [Q96AV8-2]

PTM databases

iPTMnetiQ96AV8
PhosphoSitePlusiQ96AV8

Expressioni

Inductioni

By p53/TP53 following DNA damage: expression is directly activated by p53/TP53 (at protein level).3 Publications

Gene expression databases

BgeeiENSG00000165891
CleanExiHS_E2F7
ExpressionAtlasiQ96AV8 baseline and differential
GenevisibleiQ96AV8 HS

Organism-specific databases

HPAiHPA064866

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.3 Publications

Binary interactionsi

Show more details

GO - Molecular functioni

  • identical protein binding Source: IntAct

Protein-protein interaction databases

BioGridi126855, 10 interactors
IntActiQ96AV8, 3 interactors
MINTiQ96AV8
STRINGi9606.ENSP00000323246

Structurei

3D structure databases

ProteinModelPortaliQ96AV8
SMRiQ96AV8
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domaini

In contrast to classical members of the E2F transcription factor, atypical members contain 2 DNA-binding domains and regulate transcription in a DP-independent manner. Both DNA-binding domains are required for DNA-binding and are proposed to form an intramolecular structure that is similar to the winged helix structure of the E2F-DP heterodimer (PubMed:14633988).1 Publication

Sequence similaritiesi

Belongs to the E2F/DP family.Curated

Phylogenomic databases

eggNOGiKOG2578 Eukaryota
ENOG4111IGY LUCA
GeneTreeiENSGT00530000063616
HOGENOMiHOG000013193
HOVERGENiHBG063270
InParanoidiQ96AV8
KOiK09391
OMAiIQRKVNS
OrthoDBiEOG091G0F9Z
PhylomeDBiQ96AV8
TreeFamiTF105567

Family and domain databases

Gene3Di1.10.10.10, 2 hits
InterProiView protein in InterPro
IPR015633 E2F
IPR003316 E2F_WHTH_DNA-bd_dom
IPR036388 WH-like_DNA-bd_sf
IPR036390 WH_DNA-bd_sf
PANTHERiPTHR12081 PTHR12081, 1 hit
PfamiView protein in Pfam
PF02319 E2F_TDP, 2 hits
SMARTiView protein in SMART
SM01372 E2F_TDP, 2 hits
SUPFAMiSSF46785 SSF46785, 2 hits

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. AlignAdd to basket

Isoform 1 (identifier: Q96AV8-1) [UniParc]FASTAAdd to basket
Also known as: E2F7b

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        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
Length:911
Mass (Da):99,888
Last modified:November 2, 2010 - v3
Checksum:i748FEC8F24EAC5D8
GO
Isoform 2 (identifier: Q96AV8-2) [UniParc]FASTAAdd to basket
Also known as: E2F7a

The sequence of this isoform differs from the canonical sequence as follows:
     714-845: GLNGFNVLLS...QQPESPVYVG → VTSSSDPQEHPTHTS
     846-911: Missing.

Show »
Length:728
Mass (Da):80,866
Checksum:iB3C8896A9619917B
GO
Isoform 3 (identifier: Q96AV8-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     772-787: Missing.

Note: No experimental confirmation available.
Show »
Length:895
Mass (Da):98,352
Checksum:i8731DF9891154110
GO

Sequence cautioni

The sequence BAG53257 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated
The sequence BAG53510 differs from that shown. Reason: Frameshift at position 229.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03473272F → L2 PublicationsCorresponds to variant dbSNP:rs310791Ensembl.1
Natural variantiVAR_034733626M → V. Corresponds to variant dbSNP:rs3829295Ensembl.1
Natural variantiVAR_034734854H → Q. Corresponds to variant dbSNP:rs310831Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_027473714 – 845GLNGF…PVYVG → VTSSSDPQEHPTHTS in isoform 2. 1 PublicationAdd BLAST132
Alternative sequenceiVSP_044617772 – 787Missing in isoform 3. 1 PublicationAdd BLAST16
Alternative sequenceiVSP_027474846 – 911Missing in isoform 2. 1 PublicationAdd BLAST66

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.
CCDSiCCDS9016.1 [Q96AV8-1]
RefSeqiNP_976328.2, NM_203394.2 [Q96AV8-1]
UniGeneiHs.416375

Genome annotation databases

EnsembliENST00000322886; ENSP00000323246; ENSG00000165891 [Q96AV8-1]
ENST00000416496; ENSP00000393639; ENSG00000165891 [Q96AV8-2]
GeneIDi144455
KEGGihsa:144455
UCSCiuc001sym.5 human [Q96AV8-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Entry informationi

Entry nameiE2F7_HUMAN
AccessioniPrimary (citable) accession number: Q96AV8
Secondary accession number(s): A6NC74
, B2RMR7, B3KTZ5, B3KUP8, B5MED9
Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 21, 2007
Last sequence update: November 2, 2010
Last modified: June 20, 2018
This is version 124 of the entry and version 3 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny 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

Complete proteome, Reference proteome

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