Q7Z6R9 (AP2D_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Names and origin

Protein names

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 names

Name:	TFAP2D
Synonyms:	TFAP2BL1

Organism

Homo sapiens (Human) [Reference proteome]

Taxonomic identifier

9606 [NCBI]

Taxonomic lineage

cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo

Protein attributes

Sequence length	452 AA.
Sequence status	Complete.
Protein existence	Evidence 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.

Ontologies

Keywords
Biological process	Transcription Transcription regulation
Cellular component	Nucleus
Coding sequence diversity	Polymorphism
Ligand	DNA-binding
Molecular function	Activator
PTM	Phosphoprotein
Technical term	Complete proteome Reference proteome
Gene Ontology (GO)
Biological_process	positive regulation of transcription, DNA-dependent Inferred from electronic annotation. Source: Compara transcription, DNA-dependent Inferred from electronic annotation. Source: UniProtKB-KW
Cellular_component	transcription factor complex Inferred from electronic annotation. Source: Compara
Molecular_function	DNA binding Inferred from electronic annotation. Source: UniProtKB-KW sequence-specific DNA binding transcription factor activity Inferred from electronic annotation. Source: InterPro
Complete GO annotation...

Sequence annotation (Features)

	Feature key	Position(s)	Length	Description	Graphical view	Feature identifier
Molecule processing
	Chain	1 – 452	452	Transcription factor AP-2-delta		PRO_0000309513
Regions
	Region	280 – 410	131	H-S-H (helix-span-helix), dimerization
Amino acid modifications
	Modified residue	239	1	Phosphoserine; by PKA By similarity UniProtKB P05549
Natural variations
	Natural variant	214	1	V → F in a breast cancer sample; somatic mutation. Ref.4		VAR_036975
Experimental info
	Sequence conflict	16	1	H → Y in AAK16926. Ref.1
	Sequence conflict	167	1	S → N in AAK16926. Ref.1

Sequences

	Sequence		Length	Mass (Da)
	Q7Z6R9 [UniParc]. Last modified October 1, 2003. Version 1. Checksum: 6623612B172A59EA	FASTA	452	49,578
	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

References

	« Hide 'large scale' referencesShow '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. , 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. , 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. , 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.
IPI	IPI00217422.
RefSeq	NP_758438.2. NM_172238.3.
UniGene	Hs.434107.
3D structure databases
ProteinModelPortal	Q7Z6R9.
ModBase	Search...
PTM databases
PhosphoSite	Q7Z6R9.
Polymorphism databases
DMDM	74750179.
Proteomic databases
PaxDb	Q7Z6R9.
PRIDE	Q7Z6R9.
Protocols and materials databases
DNASU	83741.
StructuralBiologyKnowledgebase	Search...
Genome annotation databases
Ensembl	ENST00000008391; ENSP00000008391; ENSG00000008197.
GeneID	83741.
KEGG	hsa:83741.
UCSC	uc003paf.3. human.
Organism-specific databases
CTD	83741.
GeneCards	GC06P050681.
H-InvDB	HIX0032849.
HGNC	HGNC:15581. TFAP2D.
HPA	HPA048962.
MIM	610161. gene.
neXtProt	NX_Q7Z6R9.
PharmGKB	PA37984.
GenAtlas	Search...
Phylogenomic databases
eggNOG	NOG328707.
HOGENOM	HOG000231737.
HOVERGEN	HBG002455.
InParanoid	Q7Z6R9.
KO	K09178.
OMA	ADFINLH.
OrthoDB	EOG47H5PZ.
PhylomeDB	Q7Z6R9.
Gene expression databases
Bgee	Q7Z6R9.
CleanEx	HS_TFAP2D.
Genevestigator	Q7Z6R9.
Family and domain databases
InterPro	IPR004979. TF_AP2. IPR013854. TF_AP2_C. [Graphical view]
PANTHER	PTHR10812. PTHR10812. 1 hit.
Pfam	PF03299. TF_AP-2. 1 hit. [Graphical view]
PRINTS	PR01748. AP2TNSCPFCT.
ProtoNet	Search...
Other
GenomeRNAi	83741.
NextBio	72753.
SOURCE	Search...

Entry information

Entry name

AP2D_HUMAN

Accession

Primary (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:	April 3, 2013
This is version 72 of the entry and version 1 of the sequence. [Complete history]

Entry status

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any 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.