TFAP4 - transcription factor AP-4 Gene

Homo sapiens

Also known as AP-4; bHLHc41

Gene ID: 7023 | Gene type: protein coding

About TFAP4

Cytogenetic location: 16p13.3 Genomic coordinates (GRCh38): 16:4,257,186-4,273,023 (from NCBI)

This gene has 7 transcripts (splice variants), 250 orthologues and 3 paralogues. Ubiquitous expression in ovary (RPKM 4.0), spleen (RPKM 3.0) and 25 other tissues.

Summary

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]

TFAP4 Products(1)

mRNA	Protein	Name
NM_003223.3	NP_003214.1	transcription factor AP-4

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables DNA binding	IDA IDA: Inferred from direct assay	9931457	GOA
enables DNA-binding transcription activator activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	2833704	GOA
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	2833704	GOA
enables E-box binding	IDA IDA: Inferred from direct assay	7933101	GOA
enables histone deacetylase binding	IPI IPI: Inferred from physical interaction	16540471	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16924111	GOA
enables protein homodimerization activity	IPI IPI: Inferred from physical interaction	2123466	GOA
enables sequence-specific DNA binding	IDA IDA: Inferred from direct assay	2123466	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA
enables transcription cis-regulatory region binding	IDA IDA: Inferred from direct assay	2833704	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator	IDA IDA: Inferred from direct assay	18818310	GOA
involved in negative regulation by host of viral transcription	IDA IDA: Inferred from direct assay	14645924	GOA
involved in negative regulation of DNA binding	IDA IDA: Inferred from direct assay	7933101	GOA
involved in negative regulation of DNA-templated transcription	IDA IDA: Inferred from direct assay	9931457	GOA
involved in negative regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	18818310	GOA
involved in negative regulation of cell population proliferation	IMP IMP: Inferred from mutant phenotype	18818310	GOA
involved in negative regulation of cyclin-dependent protein serine/threonine kinase activity	IDA IDA: Inferred from direct assay	18818310	GOA
involved in positive regulation by host of viral transcription	IDA IDA: Inferred from direct assay	2833704	GOA
involved in positive regulation of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	12663744	GOA
involved in positive regulation of apoptotic process	IDA IDA: Inferred from direct assay	18818310	GOA
involved in protein-containing complex assembly	IDA IDA: Inferred from direct assay	19505873	GOA
involved in regulation of mitotic cell cycle phase transition	IDA IDA: Inferred from direct assay	18818310	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
located in nucleus	IDA IDA: Inferred from direct assay	7933101	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

TFAP4 Protein Structure

HLH

0
100
200
300
338 a.a.

Protein Preferred Names

Protein Names

transcription factor AP-4

activating enhancer-binding protein 4

Related Diseases

Diseases

Alias

Cerebral Palsy

Infantile Cerebral Palsy	Mixed Cerebral Palsy
Palsy Cerebral	Palsy, Cerebral
Cerebral Palsy, Mixed

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS14412	TFAP4 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	TFAP4	MGD	MGI:103239
Bos taurus	TFAP4	VGNC	VGNC:35781
Rattus norvegicus	TFAP4	RGD	RGD:1308357
Felis catus	TFAP4	VGNC	VGNC:107823
Macaca mulatta	TFAP4	VGNC	VGNC:104759
Canis familiaris	TFAP4	VGNC	VGNC:47287

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