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    TFAP4 transcription factor AP-4 [ Homo sapiens (human) ]

    Gene ID: 7023, updated on 27-Nov-2024

    Summary

    Official Symbol
    TFAP4provided by HGNC
    Official Full Name
    transcription factor AP-4provided by HGNC
    Primary source
    HGNC:HGNC:11745
    See related
    Ensembl:ENSG00000090447 MIM:600743; AllianceGenome:HGNC:11745
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    AP-4; bHLHc41
    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]
    Expression
    Ubiquitous expression in ovary (RPKM 4.0), spleen (RPKM 3.0) and 25 other tissues See more
    Orthologs
    NEW
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    Genomic context

    See TFAP4 in Genome Data Viewer
    Location:
    16p13.3
    Exon count:
    10
    Annotation release Status Assembly Chr Location
    RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 16 NC_000016.10 (4257186..4273023, complement)
    RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 16 NC_060940.1 (4284515..4300348, complement)
    RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 16 NC_000016.9 (4307187..4323024, complement)

    Chromosome 16 - NC_000016.10Genomic Context describing neighboring genes Neighboring gene sarcalumenin Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4302672-4303294 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10336 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7148 Neighboring gene long intergenic non-protein coding RNA 1569 Neighboring gene uncharacterized LOC124903634 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4314566-4315209 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4315210-4315854 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4321241-4322217 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 7150 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10338 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:4323195-4324170 Neighboring gene Sharpr-MPRA regulatory region 12742 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:4336703-4337204 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:4337205-4337704 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 10339 Neighboring gene H3K27ac hESC enhancer GRCh37_chr16:4340142-4340760 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4344437-4345096 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4346736-4347609 Neighboring gene Sharpr-MPRA regulatory region 643 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4355312-4355824 Neighboring gene ReSE screen-validated silencer GRCh37_chr16:4362415-4362646 Neighboring gene H3K27ac-H3K4me1 hESC enhancers GRCh37_chr16:4364183-4364695 and GRCh37_chr16:4364696-4365208 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4367330-4367980 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4367981-4368630 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4372394-4373179 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4374751-4375535 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr16:4378569-4379569 Neighboring gene GLIS2 antisense RNA 1 Neighboring gene GLIS family zinc finger 2 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4389543-4390289 Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4390290-4391035 Neighboring gene CORO7-PAM16 readthrough Neighboring gene MPRA-validated peak2471 silencer Neighboring gene H3K4me1 hESC enhancer GRCh37_chr16:4397350-4397850 Neighboring gene presequence translocase associated motor 16

    Genomic regions, transcripts, and products

    Expression

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Apr 4 07:08:55 2018

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    HIV-1 interactions

    Replication interactions

    Interaction Pubs
    Knockdown of transcription factor AP-4 (activating enhancer binding protein 4; TFAP4) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

    Protein interactions

    Protein Gene Interaction Pubs
    Tat tat Interaction of TFIID with the HIV-1 LTR, and therefore presumably HIV-1 Tat protein, is primarily dependent on the LTR TATA element and may also be stabilized or regulated by flanking E box motifs and basic helix-loop-helix proteins such as AP-4 and E47 PubMed

    Go to the HIV-1, Human Interaction Database

    Interactions

    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

    Markers

    Gene Ontology Provided by GOA

    Process Evidence Code Pubs
    involved_in DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in cellular response to dexamethasone stimulus IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in negative regulation by host of viral transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation by host of viral transcription NAS
    Non-traceable Author Statement
    more info
    PubMed 
    involved_in negative regulation of DNA binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cell population proliferation IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in negative regulation of cyclin-dependent protein serine/threonine kinase activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in negative regulation of gene expression IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in positive regulation by host of viral transcription IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of DNA-templated transcription IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    involved_in positive regulation of apoptotic process IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in positive regulation of transcription by RNA polymerase II IEA
    Inferred from Electronic Annotation
    more info
     
    involved_in protein-containing complex assembly IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of mitotic cell cycle phase transition IDA
    Inferred from Direct Assay
    more info
    PubMed 
    involved_in regulation of transcription by RNA polymerase II IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    located_in chromatin ISA
    Inferred from Sequence Alignment
    more info
     
    located_in mitochondrion IDA
    Inferred from Direct Assay
    more info
     
    located_in nucleoplasm IDA
    Inferred from Direct Assay
    more info
     
    is_active_in nucleus IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    located_in nucleus IDA
    Inferred from Direct Assay
    more info
    PubMed 
    part_of transcription repressor complex ISS
    Inferred from Sequence or Structural Similarity
    more info
     

    General protein information

    Preferred Names
    transcription factor AP-4
    Names
    activating enhancer-binding protein 4
    class C basic helix-loop-helix protein 41
    transcription factor AP-4 (activating enhancer binding protein 4)

    NCBI Reference Sequences (RefSeq)

    NEW Try the new Transcript table

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_003223.3NP_003214.1  transcription factor AP-4

      See identical proteins and their annotated locations for NP_003214.1

      Status: VALIDATED

      Source sequence(s)
      AC009171, BU159415, DA449763, S73885
      Consensus CDS
      CCDS10510.1
      UniProtKB/Swiss-Prot
      O60409, Q01664
      UniProtKB/TrEMBL
      Q6FHM5
      Related
      ENSP00000204517.6, ENST00000204517.11
      Conserved Domains (1) summary
      pfam00010
      Location:49100
      HLH; Helix-loop-helix DNA-binding domain

    RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p14 Primary Assembly

    Genomic

    1. NC_000016.10 Reference GRCh38.p14 Primary Assembly

      Range
      4257186..4273023 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_011522635.4XP_011520937.1  transcription factor AP-4 isoform X3

      See identical proteins and their annotated locations for XP_011520937.1

      UniProtKB/TrEMBL
      Q6FHM5
      Conserved Domains (1) summary
      pfam00010
      Location:140
      HLH; Helix-loop-helix DNA-binding domain
    2. XM_011522633.4XP_011520935.1  transcription factor AP-4 isoform X2

      UniProtKB/TrEMBL
      Q6FHM5
      Conserved Domains (1) summary
      pfam00010
      Location:3687
      HLH; Helix-loop-helix DNA-binding domain
    3. XM_047434553.1XP_047290509.1  transcription factor AP-4 isoform X1

    Alternate T2T-CHM13v2.0

    Genomic

    1. NC_060940.1 Alternate T2T-CHM13v2.0

      Range
      4284515..4300348 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_054313810.1XP_054169785.1  transcription factor AP-4 isoform X3

    2. XM_054313809.1XP_054169784.1  transcription factor AP-4 isoform X2

    3. XM_054313808.1XP_054169783.1  transcription factor AP-4 isoform X1