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Protein

Transcription factor AP-2-delta

Gene

TFAP2D

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 (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-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
Proteomesi
  • UP000005640 Componenti: Chromosome 6

Organism-specific databases

EuPathDBiHostDB:ENSG00000008197.4
HGNCiHGNC:15581 TFAP2D
MIMi610161 gene
neXtProtiNX_Q7Z6R9

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

OpenTargetsiENSG00000008197
PharmGKBiPA37984

Polymorphism and mutation databases

BioMutaiTFAP2D
DMDMi74750179

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00003095131 – 452Transcription factor AP-2-deltaAdd BLAST452

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei239Phosphoserine; by PKABy similarity1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiQ7Z6R9
MaxQBiQ7Z6R9
PaxDbiQ7Z6R9
PeptideAtlasiQ7Z6R9
PRIDEiQ7Z6R9
ProteomicsDBi69455

PTM databases

iPTMnetiQ7Z6R9
PhosphoSitePlusiQ7Z6R9

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

BgeeiENSG00000008197 Expressed in 23 organ(s), highest expression level in oocyte
CleanExiHS_TFAP2D
GenevisibleiQ7Z6R9 HS

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 interactor
IntActiQ7Z6R9, 57 interactors
STRINGi9606.ENSP00000008391

Structurei

3D structure databases

ProteinModelPortaliQ7Z6R9
SMRiQ7Z6R9
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni280 – 410H-S-H (helix-span-helix), dimerizationSequence analysisAdd BLAST131

Sequence similaritiesi

Belongs to the AP-2 family.Sequence analysis

Phylogenomic databases

eggNOGiKOG3811 Eukaryota
ENOG410XR9E LUCA
GeneTreeiENSGT00550000074577
HOGENOMiHOG000231737
HOVERGENiHBG002455
InParanoidiQ7Z6R9
KOiK09178
OMAiYYQQLHH
OrthoDBiEOG091G0PR6
PhylomeDBiQ7Z6R9
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.

Q7Z6R9-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MSTTFPGLVH DAEIRHDGSN SYRLMQLGCL ESVANSTVAY SSSSPLTYST
60 70 80 90 100
TGTEFASPYF STNHQYTPLH HQSFHYEFQH SHPAVTPDAY SLNSLHHSQQ
110 120 130 140 150
YYQQIHHGEP TDFINLHNAR ALKSSCLDEQ RRELGCLDAY RRHDLSLMSH
160 170 180 190 200
GSQYGMHPDQ RLLPGPSLGL AAAGADDLQG SVEAQCGLVL NGQGGVIRRG
210 220 230 240 250
GTCVVNPTDL FCSVPGRLSL LSSTSKYKVT IAEVKRRLSP PECLNASLLG
260 270 280 290 300
GILRRAKSKN GGRCLREKLD RLGLNLPAGR RKAANVTLLT SLVEGEALHL
310 320 330 340 350
ARDFGYTCET EFPAKAVGEH LARQHMEQKE QTARKKMILA TKQICKEFQD
360 370 380 390 400
LLSQDRSPLG SSRPTPILDL DIQRHLTHFS LITHGFGTPA ICAALSTFQT
410 420 430 440 450
VLSEMLNYLE KHTTHKNGGA ADSGQGHANS EKAPLRKTSE AAVKEGKTEK

TD
Length:452
Mass (Da):49,578
Last modified:October 1, 2003 - v1
Checksum:i6623612B172A59EA
GO

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti16H → Y in AAK16926 (PubMed:11733187).Curated1
Sequence conflicti167S → N in AAK16926 (PubMed:11733187).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_036975214V → F in a breast cancer sample; somatic mutation. 1 Publication1

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY028376 mRNA Translation: AAK16926.1
AL031224 Genomic DNA No translation available.
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.4 human

Keywords - Coding sequence diversityi

Polymorphism

Similar proteinsi

Cross-referencesi

Web resourcesi

Wikipedia

Activating protein 2 entry

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AY028376 mRNA Translation: AAK16926.1
AL031224 Genomic DNA No translation available.
CH471081 Genomic DNA Translation: EAX04354.1
CCDSiCCDS4933.1
RefSeqiNP_758438.2, NM_172238.3
UniGeneiHs.434107

3D structure databases

ProteinModelPortaliQ7Z6R9
SMRiQ7Z6R9
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi123749, 1 interactor
IntActiQ7Z6R9, 57 interactors
STRINGi9606.ENSP00000008391

PTM databases

iPTMnetiQ7Z6R9
PhosphoSitePlusiQ7Z6R9

Polymorphism and mutation databases

BioMutaiTFAP2D
DMDMi74750179

Proteomic databases

EPDiQ7Z6R9
MaxQBiQ7Z6R9
PaxDbiQ7Z6R9
PeptideAtlasiQ7Z6R9
PRIDEiQ7Z6R9
ProteomicsDBi69455

Protocols and materials databases

DNASUi83741
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000008391; ENSP00000008391; ENSG00000008197
GeneIDi83741
KEGGihsa:83741
UCSCiuc003paf.4 human

Organism-specific databases

CTDi83741
EuPathDBiHostDB:ENSG00000008197.4
GeneCardsiTFAP2D
H-InvDBiHIX0032849
HGNCiHGNC:15581 TFAP2D
HPAiHPA048962
MIMi610161 gene
neXtProtiNX_Q7Z6R9
OpenTargetsiENSG00000008197
PharmGKBiPA37984
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG3811 Eukaryota
ENOG410XR9E LUCA
GeneTreeiENSGT00550000074577
HOGENOMiHOG000231737
HOVERGENiHBG002455
InParanoidiQ7Z6R9
KOiK09178
OMAiYYQQLHH
OrthoDBiEOG091G0PR6
PhylomeDBiQ7Z6R9
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

GenomeRNAii83741
PROiPR:Q7Z6R9
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000008197 Expressed in 23 organ(s), highest expression level in oocyte
CleanExiHS_TFAP2D
GenevisibleiQ7Z6R9 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 nameiAP2D_HUMAN
AccessioniPrimary (citable) accession number: Q7Z6R9
Secondary accession number(s): Q8IWX0
Entry historyiIntegrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: October 1, 2003
Last modified: November 7, 2018
This is version 110 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 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. Human chromosome 6
    Human chromosome 6: entries, gene names and cross-references to MIM
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Main funding by: National Institutes of Health

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