• Gene id: 7023

Gene Summary

• Gene Symbol: TFAP4   Gene   UCSC   Ensembl
• Aliases: AP-4, bHLHc41
• Gene name: transcription factor AP-4
• Alternate names: transcription factor AP-4, activating enhancer-binding protein 4, class C basic helix-loop-helix protein 41, transcription factor AP-4 (activating enhancer binding protein 4),
• Gene location: 16p13.3 (4273022: 4257185)     Exons: 9     NC_000016.10
• Gene summary(Entrez): 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 gen

Protein Summary

• Protein general information: Q01664  
  • Name: Transcription factor AP 4 (Activating enhancer binding protein 4) (Class C basic helix loop helix protein 41) (bHLHc41)
  • Length: 338  
  • Mass: 38726
• Sequence:

  MEYFMVPTQKVPSLQHFRKTEKEVIGGLCSLANIPLTPETQRDQERRIRREIANSNERRRMQSINAGFQSLKTLI
  PHTDGEKLSKAAILQQTAEYIFSLEQEKTRLLQQNTQLKRFIQELSGSSPKRRRAEDKDEGIGSPDIWEDEKAED
  LRREMIELRQQLDKERSVRMMLEEQVRSLEAHMYPEKLKVIAQQVQLQQQQEQVRLLHQEKLEREQQQLRTQLLP
  PPAPTHHPTVIVPAPPPPPSHHINVVTMGPSSVINSVSTSRQNLDTIVQAIQHIEGTQEKQELEEEQRRAVIVKP
  VRSCPEAPTSDTASDSEASDSDAMDQSREEPSGDGELP

• Structural information:
  • Protein Domains: (48..9-)
    (/note="bHLH-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00981"-)
  • Interpro: IPR011598  IPR036638  
  • Prosite: PS50888
  • CDD: cd00083
  • DIP: 53627
  • STRING: ENSP00000204517
• Other Databases: GeneCards:  TFAP4  Malacards:  TFAP4

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IDA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0003700	DNA-binding transcription factor activity	IBA	molecular function
GO:0006357	regulation of transcription by RNA polymerase II	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0046983	protein dimerization activity	IEA	molecular function
GO:0005634	nucleus	IEA	cellular component
GO:0003677	DNA binding	IEA	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:2001269	positive regulation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway	IEA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IEA	biological process
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA	molecular function
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA	molecular function
GO:0071549	cellular response to dexamethasone stimulus	IEA	biological process
GO:0070888	E-box binding	IEA	molecular function
GO:0065003	protein-containing complex assembly	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0042826	histone deacetylase binding	IEA	molecular function
GO:0017053	transcription repressor complex	IEA	cellular component
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0005739	mitochondrion	IDA	cellular component
GO:0005654	nucleoplasm	IDA	cellular component
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular function
GO:0043923	positive regulation by host of viral transcription	IDA	biological process
GO:0043922	negative regulation by host of viral transcription	IDA	biological process
GO:0043922	negative regulation by host of viral transcription	IDA	biological process
GO:1901990	regulation of mitotic cell cycle phase transition	IDA	biological process
GO:0070888	E-box binding	IDA	molecular function
GO:0043392	negative regulation of DNA binding	IDA	biological process
GO:0043392	negative regulation of DNA binding	IDA	biological process
GO:0006978	DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	IDA	biological process
GO:0065003	protein-containing complex assembly	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0003677	DNA binding	IDA	molecular function
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IDA	biological process
GO:0045736	negative regulation of cyclin-dependent protein serine/threonine kinase activity	IDA	biological process
GO:0043565	sequence-specific DNA binding	IDA	molecular function
GO:0070888	E-box binding	IDA	molecular function
GO:0070888	E-box binding	IDA	molecular function
GO:0070888	E-box binding	IDA	molecular function
GO:0070888	E-box binding	IDA	molecular function
GO:0043065	positive regulation of apoptotic process	IDA	biological process
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0005634	nucleus	IDA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0071157	negative regulation of cell cycle arrest	IMP	biological process
GO:0045893	positive regulation of transcription, DNA-templated	IMP	biological process
GO:0045892	negative regulation of transcription, DNA-templated	IMP	biological process
GO:0008285	negative regulation of cell population proliferation	IMP	biological process
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0043922	negative regulation by host of viral transcription	NAS	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0042826	histone deacetylase binding	IPI	molecular function
GO:0017053	transcription repressor complex	ISS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05205	Proteoglycans in cancer

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Unexplained infertility	MIK: 25753583

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
25753583	Unexplained infertility			46 (17 fertile men, 29 male patients)	Male infertility	Microarray