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Protein

Transcription factor AP-2-epsilon

Gene

TFAP2E

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

Functioni

Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGC-3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-epsilon may play a role in the development of the CNS and in cartilage differentiation (By similarity).By similarity

GO - Molecular functioni

GO - Biological processi

Keywordsi

Molecular functionActivator, DNA-binding
Biological processTranscription, Transcription regulation

Enzyme and pathway databases

ReactomeiR-HSA-8866904 Negative regulation of activity of TFAP2 (AP-2) family transcription factors
R-HSA-8866907 Activation of the TFAP2 (AP-2) family of transcription factors

Names & Taxonomyi

Protein namesi
Recommended name:
Transcription factor AP-2-epsilon
Short name:
AP2-epsilon
Alternative name(s):
Activating enhancer-binding protein 2-epsilon
Gene namesi
Name:TFAP2EImported
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
Proteomesi
  • UP000005640 Componenti: Chromosome 1

Organism-specific databases

EuPathDBiHostDB:ENSG00000116819.6
HGNCiHGNC:30774 TFAP2E
MIMi614428 gene
neXtProtiNX_Q6VUC0

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

Organism-specific databases

DisGeNETi339488
OpenTargetsiENSG00000116819
PharmGKBiPA134992283

Polymorphism and mutation databases

BioMutaiTFAP2E
DMDMi74749476

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003095161 – 442Transcription factor AP-2-epsilonAdd BLAST442

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei246Phosphoserine; by PKABy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ6VUC0
MaxQBiQ6VUC0
PaxDbiQ6VUC0
PeptideAtlasiQ6VUC0
PRIDEiQ6VUC0
ProteomicsDBi67731

PTM databases

iPTMnetiQ6VUC0
PhosphoSitePlusiQ6VUC0

Expressioni

Tissue specificityi

Expressed in skin, primary keratinocytes, immortalized keratinocytes, and HeLa cell line.1 Publication

Gene expression databases

BgeeiENSG00000116819 Expressed in 113 organ(s), highest expression level in cerebellar hemisphere
CleanExiHS_TFAP2E
GenevisibleiQ6VUC0 HS

Interactioni

Subunit structurei

Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members (By similarity).By similarity

GO - Molecular functioni

Protein-protein interaction databases

STRINGi9606.ENSP00000362332

Structurei

3D structure databases

ProteinModelPortaliQ6VUC0
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni287 – 417H-S-H (helix-span-helix), dimerizationSequence analysisAdd BLAST131

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Motifi54 – 59PPxY motifSequence analysis6

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi22 – 122Gln/Pro-rich (transactivation domain)Sequence analysisAdd BLAST101

Sequence similaritiesi

Belongs to the AP-2 family.Sequence analysis

Phylogenomic databases

eggNOGiKOG3811 Eukaryota
ENOG410XR9E LUCA
GeneTreeiENSGT00550000074577
HOGENOMiHOG000231737
HOVERGENiHBG002455
InParanoidiQ6VUC0
KOiK09179
OMAiEYLCRQS
OrthoDBiEOG091G0PR6
PhylomeDBiQ6VUC0
TreeFamiTF313718

Family and domain databases

InterProiView protein in InterPro
IPR004979 TF_AP2
IPR013854 TF_AP2_C
PANTHERiPTHR10812 PTHR10812, 1 hit
PfamiView protein in Pfam
PF03299 TF_AP-2, 1 hit
PRINTSiPR01748 AP2TNSCPFCT

Sequencei

Sequence statusi: Complete.

Q6VUC0-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MLVHTYSAME RPDGLGAAAG GARLSSLPQA AYGPAPPLCH TPAATAAAEF
60 70 80 90 100
QPPYFPPPYP QPPLPYGQAP DAAAAFPHLA GDPYGGLAPL AQPQPPQAAW
110 120 130 140 150
AAPRAAARAH EEPPGLLAPP ARALGLDPRR DYATAVPRLL HGLADGAHGL
160 170 180 190 200
ADAPLGLPGL AAAPGLEDLQ AMDEPGMSLL DQSVIKKVPI PSKASSLSAL
210 220 230 240 250
SLAKDSLVGG ITNPGEVFCS VPGRLSLLSS TSKYKVTVGE VQRRLSPPEC
260 270 280 290 300
LNASLLGGVL RRAKSKNGGR CLRERLEKIG LNLPAGRRKA ANVTLLTSLV
310 320 330 340 350
EGEAVHLARD FGYVCETEFP AKAAAEYLCR QHADPGELHS RKSMLLAAKQ
360 370 380 390 400
ICKEFADLMA QDRSPLGNSR PALILEPGVQ SCLTHFSLIT HGFGGPAICA
410 420 430 440
ALTAFQNYLL ESLKGLDKMF LSSVGSGHGE TKASEKDAKH RK
Length:442
Mass (Da):46,212
Last modified:July 5, 2004 - v1
Checksum:i823209DA7C0EC527
GO

Sequence cautioni

The sequence AAH41175 differs from that shown. Reason: Erroneous initiation.Curated
The sequence EAX07409 differs from that shown. Reason: Erroneous gene model prediction.Curated

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY326454 mRNA Translation: AAQ91614.1
AL157951, AC004865 Genomic DNA Translation: CAI23520.1
CH471059 Genomic DNA Translation: EAX07409.1 Sequence problems.
BC041175 mRNA Translation: AAH41175.1 Different initiation.
CCDSiCCDS393.2
RefSeqiNP_848643.2, NM_178548.3
UniGeneiHs.567844

Genome annotation databases

EnsembliENST00000373235; ENSP00000362332; ENSG00000116819
GeneIDi339488
KEGGihsa:339488
UCSCiuc010ohy.3 human

Similar proteinsi

Cross-referencesi

Web resourcesi

Wikipedia

Activating protein 2 entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY326454 mRNA Translation: AAQ91614.1
AL157951, AC004865 Genomic DNA Translation: CAI23520.1
CH471059 Genomic DNA Translation: EAX07409.1 Sequence problems.
BC041175 mRNA Translation: AAH41175.1 Different initiation.
CCDSiCCDS393.2
RefSeqiNP_848643.2, NM_178548.3
UniGeneiHs.567844

3D structure databases

ProteinModelPortaliQ6VUC0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

STRINGi9606.ENSP00000362332

PTM databases

iPTMnetiQ6VUC0
PhosphoSitePlusiQ6VUC0

Polymorphism and mutation databases

BioMutaiTFAP2E
DMDMi74749476

Proteomic databases

EPDiQ6VUC0
MaxQBiQ6VUC0
PaxDbiQ6VUC0
PeptideAtlasiQ6VUC0
PRIDEiQ6VUC0
ProteomicsDBi67731

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000373235; ENSP00000362332; ENSG00000116819
GeneIDi339488
KEGGihsa:339488
UCSCiuc010ohy.3 human

Organism-specific databases

CTDi339488
DisGeNETi339488
EuPathDBiHostDB:ENSG00000116819.6
GeneCardsiTFAP2E
HGNCiHGNC:30774 TFAP2E
MIMi614428 gene
neXtProtiNX_Q6VUC0
OpenTargetsiENSG00000116819
PharmGKBiPA134992283
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3811 Eukaryota
ENOG410XR9E LUCA
GeneTreeiENSGT00550000074577
HOGENOMiHOG000231737
HOVERGENiHBG002455
InParanoidiQ6VUC0
KOiK09179
OMAiEYLCRQS
OrthoDBiEOG091G0PR6
PhylomeDBiQ6VUC0
TreeFamiTF313718

Enzyme and pathway databases

ReactomeiR-HSA-8866904 Negative regulation of activity of TFAP2 (AP-2) family transcription factors
R-HSA-8866907 Activation of the TFAP2 (AP-2) family of transcription factors

Miscellaneous databases

GenomeRNAii339488
PROiPR:Q6VUC0
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000116819 Expressed in 113 organ(s), highest expression level in cerebellar hemisphere
CleanExiHS_TFAP2E
GenevisibleiQ6VUC0 HS

Family and domain databases

InterProiView protein in InterPro
IPR004979 TF_AP2
IPR013854 TF_AP2_C
PANTHERiPTHR10812 PTHR10812, 1 hit
PfamiView protein in Pfam
PF03299 TF_AP-2, 1 hit
PRINTSiPR01748 AP2TNSCPFCT
ProtoNetiSearch...

Entry informationi

Entry nameiAP2E_HUMAN
AccessioniPrimary (citable) accession number: Q6VUC0
Secondary accession number(s): Q8IW12
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: July 5, 2004
Last modified: November 7, 2018
This is version 111 of the entry and version 1 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

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
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Main funding by: National Institutes of Health

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