ID   AP2E_HUMAN              Reviewed;         442 AA.
AC   Q6VUC0; Q8IW12;
DT   13-NOV-2007, integrated into UniProtKB/Swiss-Prot.
DT   05-JUL-2004, sequence version 1.
DT   24-JAN-2024, entry version 140.
DE   RecName: Full=Transcription factor AP-2-epsilon;
DE            Short=AP2-epsilon;
DE   AltName: Full=Activating enhancer-binding protein 2-epsilon;
GN   Name=TFAP2E {ECO:0000312|EMBL:CAI23520.1};
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1] {ECO:0000305, ECO:0000312|EMBL:AAQ91614.1}
RP   NUCLEOTIDE SEQUENCE [MRNA], AND TISSUE SPECIFICITY.
RX   PubMed=14636996; DOI=10.1016/s0378-1119(03)00840-0;
RA   Tummala R., Romano R.-A., Fuchs E., Sinha S.;
RT   "Molecular cloning and characterization of AP-2 epsilon, a fifth member of
RT   the AP-2 family.";
RL   Gene 321:93-102(2003).
RN   [2] {ECO:0000312|EMBL:CAI23520.1}
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16710414; DOI=10.1038/nature04727;
RA   Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA   Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA   Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA   Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA   Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA   Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA   Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA   Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA   Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA   Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA   Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA   Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA   Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA   Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA   Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA   Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA   Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA   Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA   McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA   Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA   Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA   Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA   Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA   Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA   White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA   Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA   Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA   Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT   "The DNA sequence and biological annotation of human chromosome 1.";
RL   Nature 441:315-321(2006).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [4] {ECO:0000312|EMBL:AAH41175.1}
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
RC   TISSUE=Uterus {ECO:0000312|EMBL:AAH41175.1};
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
CC   -!- FUNCTION: Sequence-specific DNA-binding protein that interacts with
CC       inducible viral and cellular enhancer elements to regulate
CC       transcription of selected genes. AP-2 factors bind to the consensus
CC       sequence 5'-GCCNNNGGC-3' and activate genes involved in a large
CC       spectrum of important biological functions including proper eye, face,
CC       body wall, limb and neural tube development. They also suppress a
CC       number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-epsilon
CC       may play a role in the development of the CNS and in cartilage
CC       differentiation (By similarity). {ECO:0000250}.
CC   -!- SUBUNIT: Binds DNA as a dimer. Can form homodimers or heterodimers with
CC       other AP-2 family members (By similarity). {ECO:0000250}.
CC   -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000250|UniProtKB:Q6VUP9}.
CC   -!- TISSUE SPECIFICITY: Expressed in skin, primary keratinocytes,
CC       immortalized keratinocytes, and HeLa cell line.
CC       {ECO:0000269|PubMed:14636996}.
CC   -!- SIMILARITY: Belongs to the AP-2 family. {ECO:0000255}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH41175.1; Type=Erroneous initiation; Evidence={ECO:0000305};
CC       Sequence=EAX07409.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305};
CC   -!- WEB RESOURCE: Name=Wikipedia; Note=Activating protein 2 entry;
CC       URL="https://en.wikipedia.org/wiki/Activating_protein_2";
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DR   EMBL; AY326454; AAQ91614.1; -; mRNA.
DR   EMBL; AL157951; CAI23520.1; -; Genomic_DNA.
DR   EMBL; AC004865; CAI23520.1; JOINED; Genomic_DNA.
DR   EMBL; CH471059; EAX07409.1; ALT_SEQ; Genomic_DNA.
DR   EMBL; BC041175; AAH41175.1; ALT_INIT; mRNA.
DR   CCDS; CCDS393.2; -.
DR   RefSeq; NP_848643.2; NM_178548.3.
DR   AlphaFoldDB; Q6VUC0; -.
DR   SMR; Q6VUC0; -.
DR   STRING; 9606.ENSP00000362332; -.
DR   iPTMnet; Q6VUC0; -.
DR   PhosphoSitePlus; Q6VUC0; -.
DR   BioMuta; TFAP2E; -.
DR   DMDM; 74749476; -.
DR   EPD; Q6VUC0; -.
DR   jPOST; Q6VUC0; -.
DR   MassIVE; Q6VUC0; -.
DR   MaxQB; Q6VUC0; -.
DR   PaxDb; 9606-ENSP00000362332; -.
DR   PeptideAtlas; Q6VUC0; -.
DR   ProteomicsDB; 67731; -.
DR   Antibodypedia; 31581; 59 antibodies from 17 providers.
DR   DNASU; 339488; -.
DR   Ensembl; ENST00000373235.4; ENSP00000362332.3; ENSG00000116819.9.
DR   GeneID; 339488; -.
DR   KEGG; hsa:339488; -.
DR   MANE-Select; ENST00000373235.4; ENSP00000362332.3; NM_178548.4; NP_848643.2.
DR   UCSC; uc010ohy.3; human.
DR   AGR; HGNC:30774; -.
DR   CTD; 339488; -.
DR   DisGeNET; 339488; -.
DR   GeneCards; TFAP2E; -.
DR   HGNC; HGNC:30774; TFAP2E.
DR   HPA; ENSG00000116819; Tissue enriched (brain).
DR   MIM; 614428; gene.
DR   neXtProt; NX_Q6VUC0; -.
DR   OpenTargets; ENSG00000116819; -.
DR   PharmGKB; PA134992283; -.
DR   VEuPathDB; HostDB:ENSG00000116819; -.
DR   eggNOG; KOG3811; Eukaryota.
DR   GeneTree; ENSGT00950000182848; -.
DR   HOGENOM; CLU_035175_4_1_1; -.
DR   InParanoid; Q6VUC0; -.
DR   OMA; QEAGYPH; -.
DR   OrthoDB; 2883153at2759; -.
DR   PhylomeDB; Q6VUC0; -.
DR   TreeFam; TF313718; -.
DR   PathwayCommons; Q6VUC0; -.
DR   Reactome; R-HSA-8866904; Negative regulation of activity of TFAP2 (AP-2) family transcription factors.
DR   Reactome; R-HSA-8866907; Activation of the TFAP2 (AP-2) family of transcription factors.
DR   BioGRID-ORCS; 339488; 19 hits in 1165 CRISPR screens.
DR   GenomeRNAi; 339488; -.
DR   Pharos; Q6VUC0; Tbio.
DR   PRO; PR:Q6VUC0; -.
DR   Proteomes; UP000005640; Chromosome 1.
DR   RNAct; Q6VUC0; Protein.
DR   Bgee; ENSG00000116819; Expressed in cerebellar hemisphere and 105 other cell types or tissues.
DR   GO; GO:0000785; C:chromatin; ISA:NTNU_SB.
DR   GO; GO:0005634; C:nucleus; IBA:GO_Central.
DR   GO; GO:0001228; F:DNA-binding transcription activator activity, RNA polymerase II-specific; IEA:Ensembl.
DR   GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISA:NTNU_SB.
DR   GO; GO:0042802; F:identical protein binding; IEA:Ensembl.
DR   GO; GO:0000978; F:RNA polymerase II cis-regulatory region sequence-specific DNA binding; IEA:Ensembl.
DR   GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; IBA:GO_Central.
DR   GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL.
DR   GO; GO:0048856; P:anatomical structure development; IBA:GO_Central.
DR   GO; GO:0042127; P:regulation of cell population proliferation; IBA:GO_Central.
DR   GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central.
DR   InterPro; IPR004979; TF_AP2.
DR   InterPro; IPR013854; TF_AP2_C.
DR   PANTHER; PTHR10812; TRANSCRIPTION FACTOR AP-2; 1.
DR   PANTHER; PTHR10812:SF13; TRANSCRIPTION FACTOR AP-2-EPSILON; 1.
DR   Pfam; PF03299; TF_AP-2; 1.
DR   PRINTS; PR01748; AP2TNSCPFCT.
DR   Genevisible; Q6VUC0; HS.
PE   2: Evidence at transcript level;
KW   Activator; DNA-binding; Nucleus; Phosphoprotein; Reference proteome;
KW   Transcription; Transcription regulation.
FT   CHAIN           1..442
FT                   /note="Transcription factor AP-2-epsilon"
FT                   /id="PRO_0000309516"
FT   REGION          287..417
FT                   /note="H-S-H (helix-span-helix), dimerization"
FT                   /evidence="ECO:0000255"
FT   MOTIF           54..59
FT                   /note="PPxY motif"
FT                   /evidence="ECO:0000255"
FT   MOD_RES         246
FT                   /note="Phosphoserine; by PKA"
FT                   /evidence="ECO:0000250|UniProtKB:P05549"
SQ   SEQUENCE   442 AA;  46212 MW;  823209DA7C0EC527 CRC64;
     MLVHTYSAME RPDGLGAAAG GARLSSLPQA AYGPAPPLCH TPAATAAAEF QPPYFPPPYP
     QPPLPYGQAP DAAAAFPHLA GDPYGGLAPL AQPQPPQAAW AAPRAAARAH EEPPGLLAPP
     ARALGLDPRR DYATAVPRLL HGLADGAHGL ADAPLGLPGL AAAPGLEDLQ AMDEPGMSLL
     DQSVIKKVPI PSKASSLSAL SLAKDSLVGG ITNPGEVFCS VPGRLSLLSS TSKYKVTVGE
     VQRRLSPPEC LNASLLGGVL RRAKSKNGGR CLRERLEKIG LNLPAGRRKA ANVTLLTSLV
     EGEAVHLARD FGYVCETEFP AKAAAEYLCR QHADPGELHS RKSMLLAAKQ ICKEFADLMA
     QDRSPLGNSR PALILEPGVQ SCLTHFSLIT HGFGGPAICA ALTAFQNYLL ESLKGLDKMF
     LSSVGSGHGE TKASEKDAKH RK
//