Human Gene TFAP4 (uc010uxg.2)
  Description: Homo sapiens transcription factor AP-4 (activating enhancer binding protein 4) (TFAP4), mRNA.
RefSeq Summary (NM_003223): Transcription factors of the basic helix-loop-helix-zipper (bHLH-ZIP) family contain a basic domain, which is used for DNA binding, and HLH and ZIP domains, which are used for oligomerization. Transcription factor AP4 activates both viral and cellular genes by binding to the symmetrical DNA sequence CAGCTG (Mermod et al., 1988 [PubMed 2833704]; Hu et al., 1990 [PubMed 2123466]).[supplied by OMIM, Jul 2009].
Transcript (Including UTRs)
   Position: hg19 chr16:4,307,187-4,323,001 Size: 15,815 Total Exon Count: 7 Strand: -
Coding Region
   Position: hg19 chr16:4,308,056-4,322,747 Size: 14,692 Coding Exon Count: 7 

Page IndexSequence and LinksUniProtKB CommentsPrimersGenetic AssociationsMalaCards
CTDGene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein Structure
Other SpeciesGO AnnotationsmRNA DescriptionsOther NamesModel InformationMethods
Data last updated at UCSC: 2013-06-14

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr16:4,307,187-4,323,001)mRNA (may differ from genome)Protein (338 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
GeneNetworkH-INVHGNCHPRDLynxMalacards
MGIneXtProtOMIMPubMedTreefamUniProtKB
WikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: TFAP4_HUMAN
DESCRIPTION: RecName: Full=Transcription factor AP-4; AltName: Full=Activating enhancer-binding protein 4; AltName: Full=Class C basic helix-loop-helix protein 41; Short=bHLHc41;
FUNCTION: Transcription factor that activates both viral and cellular genes by binding to the symmetrical DNA sequence 5'- CAGCTG-3'.
SUBUNIT: Efficient DNA binding requires dimerization with another bHLH protein. Homodimer.
SUBCELLULAR LOCATION: Nucleus.
SIMILARITY: Contains 1 bHLH (basic helix-loop-helix) domain.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  Genetic Association Studies of Complex Diseases and Disorders
  Genetic Association Database (archive): TFAP4
CDC HuGE Published Literature: TFAP4

-  MalaCards Disease Associations
  MalaCards Gene Search: TFAP4
Diseases sorted by gene-association score: spinocerebellar ataxia 12 (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene           more ... click here to view the complete list

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 9.04 RPKM in Brain - Cerebellar Hemisphere
Total median expression: 193.53 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -86.32254-0.340 Picture PostScript Text
3' UTR -288.81869-0.332 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR011598 - HLH_dom

Pfam Domains:
PF00010 - Helix-loop-helix DNA-binding domain

SCOP Domains:
47459 - HLH, helix-loop-helix DNA-binding domain

ModBase Predicted Comparative 3D Structure on Q01664
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologGenome BrowserGenome BrowserGenome BrowserNo ortholog
Gene Details  Gene DetailsGene Details 
Gene Sorter  Gene SorterGene Sorter 
  EnsemblFlyBaseWormBase 
  Protein SequenceProtein SequenceProtein Sequence 
  AlignmentAlignmentAlignment 

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0000978 RNA polymerase II core promoter proximal region sequence-specific DNA binding
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding
GO:0003677 DNA binding
GO:0003705 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding
GO:0005515 protein binding
GO:0042803 protein homodimerization activity
GO:0042826 histone deacetylase binding
GO:0043565 sequence-specific DNA binding
GO:0044212 transcription regulatory region DNA binding
GO:0046983 protein dimerization activity
GO:0070888 E-box binding
GO:0003713 transcription coactivator activity
GO:0046982 protein heterodimerization activity

Biological Process:
GO:0006351 transcription, DNA-templated
GO:0006355 regulation of transcription, DNA-templated
GO:0006366 transcription from RNA polymerase II promoter
GO:0006978 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator
GO:0008285 negative regulation of cell proliferation
GO:0010629 negative regulation of gene expression
GO:0043065 positive regulation of apoptotic process
GO:0043392 negative regulation of DNA binding
GO:0043922 negative regulation by host of viral transcription
GO:0043923 positive regulation by host of viral transcription
GO:0045736 negative regulation of cyclin-dependent protein serine/threonine kinase activity
GO:0045892 negative regulation of transcription, DNA-templated
GO:0045893 positive regulation of transcription, DNA-templated
GO:0045944 positive regulation of transcription from RNA polymerase II promoter
GO:0065003 macromolecular complex assembly
GO:0071157 negative regulation of cell cycle arrest
GO:0071549 cellular response to dexamethasone stimulus
GO:1901990 regulation of mitotic cell cycle phase transition
GO:2001269 positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway

Cellular Component:
GO:0005634 nucleus
GO:0005739 mitochondrion
GO:0017053 transcriptional repressor complex


-  Descriptions from all associated GenBank mRNAs
  BC039696 - Homo sapiens transcription factor AP-4 (activating enhancer binding protein 4), mRNA (cDNA clone IMAGE:5219819), with apparent retained intron.
S73885 - AP-4=basic helix-loop-helix DNA-binding protein [human, cervical carcinoma, HeLa cells, mRNA, 2149 nt].
AB209146 - Homo sapiens mRNA for transcription factor AP-4 (activating enhancer binding protein 4) variant protein.
X57435 - H.sapiens mRNA for transcription factor AP-4.
BC010576 - Homo sapiens transcription factor AP-4 (activating enhancer binding protein 4), mRNA (cDNA clone MGC:17100 IMAGE:4181538), complete cds.
JD124530 - Sequence 105554 from Patent EP1572962.
JD490450 - Sequence 471474 from Patent EP1572962.
JD287078 - Sequence 268102 from Patent EP1572962.
JD492554 - Sequence 473578 from Patent EP1572962.
JD387022 - Sequence 368046 from Patent EP1572962.
JD298779 - Sequence 279803 from Patent EP1572962.
JD158080 - Sequence 139104 from Patent EP1572962.
JD471181 - Sequence 452205 from Patent EP1572962.
JD371047 - Sequence 352071 from Patent EP1572962.
JD472802 - Sequence 453826 from Patent EP1572962.
JD291054 - Sequence 272078 from Patent EP1572962.
JD520071 - Sequence 501095 from Patent EP1572962.
CR541726 - Homo sapiens full open reading frame cDNA clone RZPDo834B1029D for gene TFAP4, transcription factor AP-4 (activating enhancer binding protein 4); complete cds, incl. stopcodon.
KJ892266 - Synthetic construct Homo sapiens clone ccsbBroadEn_01660 TFAP4 gene, encodes complete protein.
DQ893617 - Synthetic construct clone IMAGE:100006247; FLH183022.01X; RZPDo839E12140D transcription factor AP-4 (activating enhancer binding protein 4) (TFAP4) gene, encodes complete protein.
DQ895293 - Synthetic construct Homo sapiens clone IMAGE:100009753; FLH183018.01L; RZPDo839E12139D transcription factor AP-4 (activating enhancer binding protein 4) (TFAP4) gene, encodes complete protein.
AB464303 - Synthetic construct DNA, clone: pF1KB7671, Homo sapiens TFAP4 gene for transcription factor AP-4, without stop codon, in Flexi system.
CU679751 - Synthetic construct Homo sapiens gateway clone IMAGE:100018999 5' read TFAP4 mRNA.
AK309301 - Homo sapiens cDNA, FLJ99342.
JD525717 - Sequence 506741 from Patent EP1572962.
JD399241 - Sequence 380265 from Patent EP1572962.

-  Other Names for This Gene
  Alternate Gene Symbols: BHLHC41, NM_003223, NP_003214, O60409, Q01664, TFAP4_HUMAN
UCSC ID: uc010uxg.2
RefSeq Accession: NM_003223
Protein: Q01664 (aka TFAP4_HUMAN or TAP4_HUMAN)
CCDS: CCDS10510.1

-  Gene Model Information
 
category: coding nonsense-mediated-decay: no RNA accession: NM_003223.2
exon count: 7CDS single in 3' UTR: no RNA size: 2147
ORF size: 1017CDS single in intron: no Alignment % ID: 100.00
txCdsPredict score: 2010.00frame shift in genome: no % Coverage: 99.67
has start codon: yes stop codon in genome: no # of Alignments: 1
has end codon: yes retained intron: no # AT/AC introns 0
selenocysteine: no end bleed into intron: 0# strange splices: 0
Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.