Skip Header

You are using a version of Internet Explorer that may not display all features of this website. Please upgrade to a modern browser.
Contribute Send feedback
Read comments (?) or add your own

Q7Z6R9 (AP2D_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 80. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Sequence annotation·Sequences·References·Web links·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended 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 names
Name:TFAP2D
Synonyms:TFAP2BL1
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length452 AA.
Sequence statusComplete.
Protein existenceEvidence at transcript level

General annotation (Comments)

Function

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.

Subunit structure

Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members By similarity. UniProtKB Q91ZK0

Subcellular location

Nucleus Probable.

Tissue specificity

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. Ref.1

Sequence similarities

Belongs to the AP-2 family.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 452452Transcription factor AP-2-delta
PRO_0000309513

Regions

Region280 – 410131H-S-H (helix-span-helix), dimerization

Amino acid modifications

Modified residue2391Phosphoserine; by PKA By similarity UniProtKB P05549

Natural variations

Natural variant2141V → F in a breast cancer sample; somatic mutation. Ref.4
VAR_036975

Experimental info

Sequence conflict161H → Y in AAK16926. Ref.1
Sequence conflict1671S → N in AAK16926. Ref.1

Sequences

Sequence LengthMass (Da)Tools
Q7Z6R9 [UniParc].

Last modified October 1, 2003. Version 1.
Checksum: 6623612B172A59EA

FASTA45249,578
        10         20         30         40         50         60 
MSTTFPGLVH DAEIRHDGSN SYRLMQLGCL ESVANSTVAY SSSSPLTYST TGTEFASPYF 

        70         80         90        100        110        120 
STNHQYTPLH HQSFHYEFQH SHPAVTPDAY SLNSLHHSQQ YYQQIHHGEP TDFINLHNAR 

       130        140        150        160        170        180 
ALKSSCLDEQ RRELGCLDAY RRHDLSLMSH GSQYGMHPDQ RLLPGPSLGL AAAGADDLQG 

       190        200        210        220        230        240 
SVEAQCGLVL NGQGGVIRRG GTCVVNPTDL FCSVPGRLSL LSSTSKYKVT IAEVKRRLSP 

       250        260        270        280        290        300 
PECLNASLLG GILRRAKSKN GGRCLREKLD RLGLNLPAGR RKAANVTLLT SLVEGEALHL 

       310        320        330        340        350        360 
ARDFGYTCET EFPAKAVGEH LARQHMEQKE QTARKKMILA TKQICKEFQD LLSQDRSPLG 

       370        380        390        400        410        420 
SSRPTPILDL DIQRHLTHFS LITHGFGTPA ICAALSTFQT VLSEMLNYLE KHTTHKNGGA 

       430        440        450 
ADSGQGHANS EKAPLRKTSE AAVKEGKTEK TD 

« Hide

References

« Hide 'large scale' references
[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. expand/collapse author list , 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]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[4]"The consensus coding sequences of human breast and colorectal cancers."
Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V. expand/collapse author list , Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.
Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] PHE-214.
+Additional computationally mapped references.

Web resources

Wikipedia

Activatin protein 2 entry

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AY028376 mRNA. Translation: AAK16926.1.
AL031224 Genomic DNA. Translation: CAD92558.1.
CH471081 Genomic DNA. Translation: EAX04354.1.
CCDSCCDS4933.1.
RefSeqNP_758438.2. NM_172238.3.
UniGeneHs.434107.

3D structure databases

ProteinModelPortalQ7Z6R9.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid123749. 1 interaction.
STRING9606.ENSP00000008391.

PTM databases

PhosphoSiteQ7Z6R9.

Polymorphism databases

DMDM74750179.

Proteomic databases

MaxQBQ7Z6R9.
PaxDbQ7Z6R9.
PRIDEQ7Z6R9.

Protocols and materials databases

DNASU83741.
StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000008391; ENSP00000008391; ENSG00000008197.
GeneID83741.
KEGGhsa:83741.
UCSCuc003paf.3. human.

Organism-specific databases

CTD83741.
GeneCardsGC06P050681.
H-InvDBHIX0032849.
HGNCHGNC:15581. TFAP2D.
HPAHPA048962.
MIM610161. gene.
neXtProtNX_Q7Z6R9.
PharmGKBPA37984.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG328707.
HOGENOMHOG000231737.
HOVERGENHBG002455.
InParanoidQ7Z6R9.
KOK09178.
OMAFSANHQY.
OrthoDBEOG7HHWS1.
PhylomeDBQ7Z6R9.
TreeFamTF313718.

Gene expression databases

BgeeQ7Z6R9.
CleanExHS_TFAP2D.
GenevestigatorQ7Z6R9.

Family and domain databases

InterProIPR004979. TF_AP2.
IPR013854. TF_AP2_C.
[Graphical view]
PANTHERPTHR10812. PTHR10812. 1 hit.
PfamPF03299. TF_AP-2. 1 hit.
[Graphical view]
PRINTSPR01748. AP2TNSCPFCT.
ProtoNetSearch...

Other

GenomeRNAi83741.
NextBio72753.
PROQ7Z6R9.
SOURCESearch...

Entry information

Entry nameAP2D_HUMAN
AccessionPrimary (citable) accession number: Q7Z6R9
Secondary accession number(s): Q8IWX0
Entry history
Integrated into UniProtKB/Swiss-Prot: November 13, 2007
Last sequence update: October 1, 2003
Last modified: July 9, 2014
This is version 80 of the entry and version 1 of the sequence. [Complete history]
Entry statusReviewed (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.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 6

Human chromosome 6: entries, gene names and cross-references to MIM