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Q7Z6R9

- AP2D_HUMAN

UniProt

Q7Z6R9 - AP2D_HUMAN

Protein

Transcription factor AP-2-delta

Gene

TFAP2D

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 81 (01 Oct 2014)
      Sequence version 1 (01 Oct 2003)
      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 By similarity.By similarity

    GO - Molecular functioni

    1. RNA polymerase II regulatory region sequence-specific DNA binding Source: Ensembl
    2. sequence-specific DNA binding RNA polymerase II transcription factor activity Source: Ensembl

    GO - Biological processi

    1. inferior colliculus development Source: Ensembl
    2. negative regulation of neuron apoptotic process Source: Ensembl
    3. positive regulation of transcription from RNA polymerase II promoter Source: Ensembl

    Keywords - Molecular functioni

    Activator

    Keywords - Biological processi

    Transcription, Transcription regulation

    Keywords - Ligandi

    DNA-binding

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Transcription factor AP-2-delta
    Short name:
    AP2-delta
    Alternative name(s):
    Activating enhancer-binding protein 2-delta
    Transcription factor AP-2-beta-like 1
    Gene namesi
    Name:TFAP2DImported
    Synonyms:TFAP2BL11 Publication
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 6

    Organism-specific databases

    HGNCiHGNC:15581. TFAP2D.

    Subcellular locationi

    Nucleus Curated

    GO - Cellular componenti

    1. nucleus Source: UniProtKB-SubCell
    2. transcription factor complex Source: Ensembl

    Keywords - Cellular componenti

    Nucleus

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA37984.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 452452Transcription factor AP-2-deltaPRO_0000309513Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Modified residuei239 – 2391Phosphoserine; by PKABy similarity

    Keywords - PTMi

    Phosphoprotein

    Proteomic databases

    MaxQBiQ7Z6R9.
    PaxDbiQ7Z6R9.
    PRIDEiQ7Z6R9.

    PTM databases

    PhosphoSiteiQ7Z6R9.

    Expressioni

    Tissue specificityi

    Highly expressed in brain, placenta, skeletal muscle, thymus, small intestine, and prostate, and expressed at lower levels in leukocyte, spleen, testis, ovary and colon. Barely detectable in heart, kidney, liver, lung or pancreas.1 Publication

    Gene expression databases

    BgeeiQ7Z6R9.
    CleanExiHS_TFAP2D.
    GenevestigatoriQ7Z6R9.

    Organism-specific databases

    HPAiHPA048962.

    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

    BioGridi123749. 1 interaction.
    STRINGi9606.ENSP00000008391.

    Structurei

    3D structure databases

    ProteinModelPortaliQ7Z6R9.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Region

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Regioni280 – 410131H-S-H (helix-span-helix), dimerizationSequence AnalysisAdd
    BLAST

    Sequence similaritiesi

    Belongs to the AP-2 family.Sequence Analysis

    Phylogenomic databases

    eggNOGiNOG328707.
    HOGENOMiHOG000231737.
    HOVERGENiHBG002455.
    InParanoidiQ7Z6R9.
    KOiK09178.
    OMAiFSANHQY.
    OrthoDBiEOG7HHWS1.
    PhylomeDBiQ7Z6R9.
    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.

    Q7Z6R9-1 [UniParc]FASTAAdd to Basket

    « Hide

    MSTTFPGLVH DAEIRHDGSN SYRLMQLGCL ESVANSTVAY SSSSPLTYST    50
    TGTEFASPYF STNHQYTPLH HQSFHYEFQH SHPAVTPDAY SLNSLHHSQQ 100
    YYQQIHHGEP TDFINLHNAR ALKSSCLDEQ RRELGCLDAY RRHDLSLMSH 150
    GSQYGMHPDQ RLLPGPSLGL AAAGADDLQG SVEAQCGLVL NGQGGVIRRG 200
    GTCVVNPTDL FCSVPGRLSL LSSTSKYKVT IAEVKRRLSP PECLNASLLG 250
    GILRRAKSKN GGRCLREKLD RLGLNLPAGR RKAANVTLLT SLVEGEALHL 300
    ARDFGYTCET EFPAKAVGEH LARQHMEQKE QTARKKMILA TKQICKEFQD 350
    LLSQDRSPLG SSRPTPILDL DIQRHLTHFS LITHGFGTPA ICAALSTFQT 400
    VLSEMLNYLE KHTTHKNGGA ADSGQGHANS EKAPLRKTSE AAVKEGKTEK 450
    TD 452
    Length:452
    Mass (Da):49,578
    Last modified:October 1, 2003 - v1
    Checksum:i6623612B172A59EA
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti16 – 161H → Y in AAK16926. (PubMed:11733187)Curated
    Sequence conflicti167 – 1671S → N in AAK16926. (PubMed:11733187)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti214 – 2141V → F in a breast cancer sample; somatic mutation. 1 Publication
    VAR_036975

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY028376 mRNA. Translation: AAK16926.1.
    AL031224 Genomic DNA. Translation: CAD92558.1.
    CH471081 Genomic DNA. Translation: EAX04354.1.
    CCDSiCCDS4933.1.
    RefSeqiNP_758438.2. NM_172238.3.
    UniGeneiHs.434107.

    Genome annotation databases

    EnsembliENST00000008391; ENSP00000008391; ENSG00000008197.
    GeneIDi83741.
    KEGGihsa:83741.
    UCSCiuc003paf.3. human.

    Polymorphism databases

    DMDMi74750179.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Wikipedia

    Activatin protein 2 entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AY028376 mRNA. Translation: AAK16926.1 .
    AL031224 Genomic DNA. Translation: CAD92558.1 .
    CH471081 Genomic DNA. Translation: EAX04354.1 .
    CCDSi CCDS4933.1.
    RefSeqi NP_758438.2. NM_172238.3.
    UniGenei Hs.434107.

    3D structure databases

    ProteinModelPortali Q7Z6R9.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 123749. 1 interaction.
    STRINGi 9606.ENSP00000008391.

    PTM databases

    PhosphoSitei Q7Z6R9.

    Polymorphism databases

    DMDMi 74750179.

    Proteomic databases

    MaxQBi Q7Z6R9.
    PaxDbi Q7Z6R9.
    PRIDEi Q7Z6R9.

    Protocols and materials databases

    DNASUi 83741.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000008391 ; ENSP00000008391 ; ENSG00000008197 .
    GeneIDi 83741.
    KEGGi hsa:83741.
    UCSCi uc003paf.3. human.

    Organism-specific databases

    CTDi 83741.
    GeneCardsi GC06P050681.
    H-InvDB HIX0032849.
    HGNCi HGNC:15581. TFAP2D.
    HPAi HPA048962.
    MIMi 610161. gene.
    neXtProti NX_Q7Z6R9.
    PharmGKBi PA37984.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG328707.
    HOGENOMi HOG000231737.
    HOVERGENi HBG002455.
    InParanoidi Q7Z6R9.
    KOi K09178.
    OMAi FSANHQY.
    OrthoDBi EOG7HHWS1.
    PhylomeDBi Q7Z6R9.
    TreeFami TF313718.

    Miscellaneous databases

    GenomeRNAii 83741.
    NextBioi 72753.
    PROi Q7Z6R9.
    SOURCEi Search...

    Gene expression databases

    Bgeei Q7Z6R9.
    CleanExi HS_TFAP2D.
    Genevestigatori Q7Z6R9.

    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. "Cloning and characterization of a novel human transcription factor AP-2 beta like gene (TFAP2BL1)."
      Cheng C., Ying K., Xu M., Zhao W., Zhou Z., Huang Y., Wang W., Xu J., Zeng L., Xie Y., Mao Y.
      Int. J. Biochem. Cell Biol. 34:78-86(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY.
    2. "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J., Palmer S.A., Sims S.K., Edwards C.A., Ashurst J.L., Wilming L., Jones M.C., Horton R., Hunt S.E., Scott C.E., Gilbert J.G.R., Clamp M.E., Bethel G., Milne S., Ainscough R., Almeida J.P., Ambrose K.D., Andrews T.D.
      , Ashwell R.I.S., Babbage A.K., Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., Beare D.M., Beasley H., Beasley O., Bird C.P., Blakey S.E., Bray-Allen S., Brook J., Brown A.J., Brown J.Y., Burford D.C., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., Clark S.Y., Clark G., Clee C.M., Clegg S., Cobley V., Collier R.E., Collins J.E., Colman L.K., Corby N.R., Coville G.J., Culley K.M., Dhami P., Davies J., Dunn M., Earthrowl M.E., Ellington A.E., Evans K.A., Faulkner L., Francis M.D., Frankish A., Frankland J., French L., Garner P., Garnett J., Ghori M.J., Gilby L.M., Gillson C.J., Glithero R.J., Grafham D.V., Grant M., Gribble S., Griffiths C., Griffiths M.N.D., Hall R., Halls K.S., Hammond S., Harley J.L., Hart E.A., Heath P.D., Heathcott R., Holmes S.J., Howden P.J., Howe K.L., Howell G.R., Huckle E., Humphray S.J., Humphries M.D., Hunt A.R., Johnson C.M., Joy A.A., Kay M., Keenan S.J., Kimberley A.M., King A., Laird G.K., Langford C., Lawlor S., Leongamornlert D.A., Leversha M., Lloyd C.R., Lloyd D.M., Loveland J.E., Lovell J., Martin S., Mashreghi-Mohammadi M., Maslen G.L., Matthews L., McCann O.T., McLaren S.J., McLay K., McMurray A., Moore M.J.F., Mullikin J.C., Niblett D., Nickerson T., Novik K.L., Oliver K., Overton-Larty E.K., Parker A., Patel R., Pearce A.V., Peck A.I., Phillimore B.J.C.T., Phillips S., Plumb R.W., Porter K.M., Ramsey Y., Ranby S.A., Rice C.M., Ross M.T., Searle S.M., Sehra H.K., Sheridan E., Skuce C.D., Smith S., Smith M., Spraggon L., Squares S.L., Steward C.A., Sycamore N., Tamlyn-Hall G., Tester J., Theaker A.J., Thomas D.W., Thorpe A., Tracey A., Tromans A., Tubby B., Wall M., Wallis J.M., West A.P., White S.S., Whitehead S.L., Whittaker H., Wild A., Willey D.J., Wilmer T.E., Wood J.M., Wray P.W., Wyatt J.C., Young L., Younger R.M., Bentley D.R., Coulson A., Durbin R.M., Hubbard T., Sulston J.E., Dunham I., Rogers J., Beck S.
      Nature 425:805-811(2003) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    4. Cited for: VARIANT [LARGE SCALE ANALYSIS] PHE-214.

    Entry informationi

    Entry nameiAP2D_HUMAN
    AccessioniPrimary (citable) accession number: Q7Z6R9
    Secondary accession number(s): Q8IWX0
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: November 13, 2007
    Last sequence update: October 1, 2003
    Last modified: October 1, 2014
    This is version 81 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 6
      Human chromosome 6: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. MIM cross-references
      Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
    5. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3