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Q6VUC0

- AP2E_HUMAN

UniProt

Q6VUC0 - AP2E_HUMAN

Protein

Transcription factor AP-2-epsilon

Gene

TFAP2E

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 82 (01 Oct 2014)
      Sequence version 1 (05 Jul 2004)
      Previous versions | rss
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    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

    1. DNA binding Source: UniProtKB-KW
    2. sequence-specific DNA binding transcription factor activity Source: InterPro

    GO - Biological processi

    1. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl
    2. transcription, DNA-templated Source: UniProtKB-KW

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    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
    ProteomesiUP000005640: Chromosome 1

    Organism-specific databases

    HGNCiHGNC:30774. TFAP2E.

    Subcellular locationi

    Nucleus By similarity

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA134992283.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 442442Transcription factor AP-2-epsilonPRO_0000309516Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei246 – 2461Phosphoserine; by PKABy similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ6VUC0.
    PaxDbiQ6VUC0.
    PRIDEiQ6VUC0.

    PTM databases

    PhosphoSiteiQ6VUC0.

    Expressioni

    Tissue specificityi

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

    Gene expression databases

    BgeeiQ6VUC0.
    CleanExiHS_TFAP2E.
    GenevestigatoriQ6VUC0.

    Interactioni

    Subunit structurei

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

    Protein-protein interaction databases

    BioGridi130894. 1 interaction.
    STRINGi9606.ENSP00000362332.

    Structurei

    3D structure databases

    ProteinModelPortaliQ6VUC0.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni287 – 417131H-S-H (helix-span-helix), dimerizationSequence AnalysisAdd
    BLAST

    Motif

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Motifi54 – 596WW-bindingSequence Analysis

    Compositional bias

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Compositional biasi22 – 122101Gln/Pro-rich (transactivation domain)Sequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the AP-2 family.Sequence Analysis

    Phylogenomic databases

    eggNOGiNOG300693.
    HOGENOMiHOG000231737.
    HOVERGENiHBG002455.
    InParanoidiQ6VUC0.
    KOiK09179.
    OMAiGITNPGE.
    OrthoDBiEOG7HHWS1.
    PhylomeDBiQ6VUC0.
    TreeFamiTF313718.

    Family and domain databases

    InterProiIPR004979. TF_AP2.
    IPR013854. TF_AP2_C.
    [Graphical view]
    PANTHERiPTHR10812. PTHR10812. 1 hit.
    PfamiPF03299. TF_AP-2. 1 hit.
    [Graphical view]
    PRINTSiPR01748. AP2TNSCPFCT.

    Sequencei

    Sequence statusi: Complete.

    Q6VUC0-1 [UniParc]FASTAAdd to Basket

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    MLVHTYSAME RPDGLGAAAG GARLSSLPQA AYGPAPPLCH TPAATAAAEF    50
    QPPYFPPPYP QPPLPYGQAP DAAAAFPHLA GDPYGGLAPL AQPQPPQAAW 100
    AAPRAAARAH EEPPGLLAPP ARALGLDPRR DYATAVPRLL HGLADGAHGL 150
    ADAPLGLPGL AAAPGLEDLQ AMDEPGMSLL DQSVIKKVPI PSKASSLSAL 200
    SLAKDSLVGG ITNPGEVFCS VPGRLSLLSS TSKYKVTVGE VQRRLSPPEC 250
    LNASLLGGVL RRAKSKNGGR CLRERLEKIG LNLPAGRRKA ANVTLLTSLV 300
    EGEAVHLARD FGYVCETEFP AKAAAEYLCR QHADPGELHS RKSMLLAAKQ 350
    ICKEFADLMA QDRSPLGNSR PALILEPGVQ SCLTHFSLIT HGFGGPAICA 400
    ALTAFQNYLL ESLKGLDKMF LSSVGSGHGE TKASEKDAKH RK 442
    Length:442
    Mass (Da):46,212
    Last modified:July 5, 2004 - v1
    Checksum:i823209DA7C0EC527
    GO

    Sequence cautioni

    The sequence AAH41175.1 differs from that shown. Reason: Erroneous initiation.
    The sequence EAX07409.1 differs from that shown. Reason: Erroneous gene model prediction.

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.2. human.

    Polymorphism databases

    DMDMi74749476.

    Cross-referencesi

    Web resourcesi

    Wikipedia

    Activatin protein 2 entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    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.
    CCDSi CCDS393.2.
    RefSeqi NP_848643.2. NM_178548.3.
    UniGenei Hs.567844.

    3D structure databases

    ProteinModelPortali Q6VUC0.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 130894. 1 interaction.
    STRINGi 9606.ENSP00000362332.

    PTM databases

    PhosphoSitei Q6VUC0.

    Polymorphism databases

    DMDMi 74749476.

    Proteomic databases

    MaxQBi Q6VUC0.
    PaxDbi Q6VUC0.
    PRIDEi Q6VUC0.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000373235 ; ENSP00000362332 ; ENSG00000116819 .
    GeneIDi 339488.
    KEGGi hsa:339488.
    UCSCi uc010ohy.2. human.

    Organism-specific databases

    CTDi 339488.
    GeneCardsi GC01P036038.
    HGNCi HGNC:30774. TFAP2E.
    MIMi 614428. gene.
    neXtProti NX_Q6VUC0.
    PharmGKBi PA134992283.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG300693.
    HOGENOMi HOG000231737.
    HOVERGENi HBG002455.
    InParanoidi Q6VUC0.
    KOi K09179.
    OMAi GITNPGE.
    OrthoDBi EOG7HHWS1.
    PhylomeDBi Q6VUC0.
    TreeFami TF313718.

    Miscellaneous databases

    GenomeRNAii 339488.
    NextBioi 97432.
    PROi Q6VUC0.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q6VUC0.
    CleanExi HS_TFAP2E.
    Genevestigatori Q6VUC0.

    Family and domain databases

    InterProi IPR004979. TF_AP2.
    IPR013854. TF_AP2_C.
    [Graphical view ]
    PANTHERi PTHR10812. PTHR10812. 1 hit.
    Pfami PF03299. TF_AP-2. 1 hit.
    [Graphical view ]
    PRINTSi PR01748. AP2TNSCPFCT.
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning and characterization of AP-2 epsilon, a fifth member of the AP-2 family."
      Tummala R., Romano R.-A., Fuchs E., Sinha S.
      Gene 321:93-102(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    2. "The DNA sequence and biological annotation of human chromosome 1."
      Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.
      , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
      Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
      Tissue: UterusImported.

    Entry informationi

    Entry nameiAP2E_HUMAN
    AccessioniPrimary (citable) accession number: Q6VUC0
    Secondary accession number(s): Q8IW12
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 13, 2007
    Last sequence update: July 5, 2004
    Last modified: October 1, 2014
    This is version 82 of the entry and version 1 of the sequence. [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. Human chromosome 1
      Human chromosome 1: entries, gene names and cross-references to MIM
    2. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    3. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3