Free for academic non-profit institutions. Other users need a Commercial license

Aliases for POU4F1 Gene

Aliases for POU4F1 Gene

  • POU Class 4 Homeobox 1 2 3 5
  • Brain-Specific Homeobox/POU Domain Protein 3A 3 4
  • Homeobox/POU Domain Protein RDC-1 3 4
  • Brain-3A 3 4
  • Brn-3A 3 4
  • Oct-T1 3 4
  • BRN3A 3 4
  • POU Domain, Class 4, Transcription Factor 1 3
  • POU Domain Class 4, Transcription Factor 1 2
  • RDC-1 3
  • RDC1 4

External Ids for POU4F1 Gene

Previous HGNC Symbols for POU4F1 Gene

  • BRN3A

Previous GeneCards Identifiers for POU4F1 Gene

  • GC13M077140
  • GC13M073168
  • GC13M078109
  • GC13M076971
  • GC13M078071
  • GC13M079173
  • GC13M059873

Summaries for POU4F1 Gene

Entrez Gene Summary for POU4F1 Gene

  • This gene encodes a member of the POU-IV class of neural transcription factors. This protein is expressed in a subset of retinal ganglion cells and may be involved in the developing sensory nervous system. This protein may also promote the growth of cervical tumors. A translocation of this gene is associated with some adult acute myeloid leukemias. [provided by RefSeq, Mar 2012]

GeneCards Summary for POU4F1 Gene

POU4F1 (POU Class 4 Homeobox 1) is a Protein Coding gene. Diseases associated with POU4F1 include Cervical Cancer, Somatic and Papilloma. Among its related pathways are Regulation of TP53 Activity and Gene Expression. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding. An important paralog of this gene is POU4F2.

UniProtKB/Swiss-Prot for POU4F1 Gene

  • Multifunctional transcription factor with different regions mediating its different effects. Acts by binding (via its C-terminal domain) to sequences related to the consensus octamer motif 5-ATGCAAAT-3 in the regulatory regions of its target genes. Regulates the expression of specific genes involved in differentiation and survival within a subset of neuronal lineages. It has been shown that activation of some of these genes requires its N-terminal domain, maybe through a neuronal-specific cofactor. Ativates BCL2 expression and protects neuronal cells from apoptosis (via the N-terminal domain). Induces neuronal process outgrowth and the coordinate expression of genes encoding synaptic proteins. Exerts its major developmental effects in somatosensory neurons and in brainstem nuclei involved in motor control. Stimulates the binding affinity of the nuclear estrogene receptor ESR1 to DNA estrogen response element (ERE), and hence modulates ESR1-induced transcriptional activity. May positively regulate POU4F2 and POU4F3. Regulates dorsal root ganglion sensory neuron specification and axonal projection into the spinal cord. Plays a role in TNFSF11-mediated terminal osteoclast differentiation. Negatively regulates its own expression interacting directly with a highly conserved autoregulatory domain surrounding the transcription initiation site.

  • Isoform 2: Able to act as transcription factor, cannot regulate the expression of the same subset of genes than isoform 1. Does not have antiapoptotic effect on neuronal cells.

Gene Wiki entry for POU4F1 Gene

Additional gene information for POU4F1 Gene

No data available for CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for POU4F1 Gene

Genomics for POU4F1 Gene

Regulatory Elements for POU4F1 Gene

Enhancers for POU4F1 Gene
GeneHancer Identifier Enhancer Score Enhancer Sources Gene-Enhancer Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor Binding Sites within enhancer Gene Targets for Enhancer
GH13H078601 1.2 Ensembl ENCODE 9.4 +1.1 1050 2 PKNOX1 ATF1 ARNT ARID4B SIN3A FEZF1 BRCA1 ZNF121 GLIS2 RUNX3 RBM26 ENSG00000271776 POU4F1 GC13M078596
GH13H078646 1 Ensembl ENCODE 11.1 -43.6 -43600 1 MLX TAL1 ARID4B RARA TEAD3 TCF12 CTBP1 NCOR1 MIXL1 SOX5 POU4F1 ENSG00000271776 GC13P078650 GC13M078632
GH13H078657 1.1 ENCODE 8 -55.6 -55634 2 PKNOX1 FOXA2 ARID4B SIN3A DMAP1 ZNF2 YY1 ZNF143 SP3 MXD4 RBM26 ENSG00000271776 POU4F1 RNF219 GC13P078744
GH13H078129 0.6 dbSUPER 10.9 +471.8 471824 5 CTCF PKNOX1 ARNT FEZF1 RAD21 HIC1 FOXM1 CTBP1 TRIM28 POU4F1 EDNRB GC13M078137 PIR49322
GH13H078608 1.6 Ensembl 0.4 -5.8 -5799 1 POLR2A L3MBTL2 ZFP3 SUZ12 PATZ1 CTBP2 EZH2 ENSG00000271776 POU4F1 GC13M078602
- Elite enhancer and/or Elite enhancer-gene association Download GeneHancer data dump

Enhancers around POU4F1 on UCSC Golden Path with GeneCards custom track

Genomic Location for POU4F1 Gene

Chromosome:
13
Start:
78,598,362 bp from pter
End:
78,603,560 bp from pter
Size:
5,199 bases
Orientation:
Minus strand

Genomic View for POU4F1 Gene

Genes around POU4F1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POU4F1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POU4F1 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for POU4F1 Gene

Proteins for POU4F1 Gene

  • Protein details for POU4F1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01851-PO4F1_HUMAN
    Recommended name:
    POU domain, class 4, transcription factor 1
    Protein Accession:
    Q01851
    Secondary Accessions:
    • Q14986
    • Q15318
    • Q5T227

    Protein attributes for POU4F1 Gene

    Size:
    419 amino acids
    Molecular mass:
    42697 Da
    Quaternary structure:
    • Interacts (via N-terminus) with RIT2; the interaction controls POU4F1 transactivation activity on some neuronal target genes. Isoform 1 interacts with POU4F2; this interaction inhibits both POU4F1 DNA-binding and transcriptional activities. Isoform 1 interacts (C-terminus) with ESR1 (via DNA-binding domain); this interaction decreases the estrogen receptor ESR1 transcriptional activity in a DNA- and ligand 17-beta-estradiol-independent manner.
    SequenceCaution:
    • Sequence=CAA45907.1; Type=Frameshift; Positions=Several; Evidence={ECO:0000305};

    Alternative splice isoforms for POU4F1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POU4F1 Gene

Post-translational modifications for POU4F1 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POU4F1 Gene

ENSEMBL proteins:
REFSEQ proteins:

No data available for DME Specific Peptides for POU4F1 Gene

Domains & Families for POU4F1 Gene

Gene Families for POU4F1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted intracellular proteins
  • Transcription factors

Suggested Antigen Peptide Sequences for POU4F1 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q01851

UniProtKB/Swiss-Prot:

PO4F1_HUMAN :
  • The C-terminal domain is able to act as both DNA-binding domain and a transcriptional activator. The N-terminal domain is also required for transactivation acitvitty on some target genes acting as a discrete activation domain. Neurite outgrowth and expression of genes required for synapse formation are primarily dependent on the C-terminal domain, however the N-terminal domain is required for maximal induction.
  • Belongs to the POU transcription factor family. Class-4 subfamily.
Domain:
  • The C-terminal domain is able to act as both DNA-binding domain and a transcriptional activator. The N-terminal domain is also required for transactivation acitvitty on some target genes acting as a discrete activation domain. Neurite outgrowth and expression of genes required for synapse formation are primarily dependent on the C-terminal domain, however the N-terminal domain is required for maximal induction.
Family:
  • Belongs to the POU transcription factor family. Class-4 subfamily.
genes like me logo Genes that share domains with POU4F1: view

Function for POU4F1 Gene

Molecular function for POU4F1 Gene

GENATLAS Biochemistry:
POU domain,class 4,transcription factor 1,mammalian homeo box backfoot,Drosophila bicoid related,expressed in Rathke pouch at an early stage of pituitary development and in a subset of adult anterior pituitary cells that express POMC
UniProtKB/Swiss-Prot Function:
Multifunctional transcription factor with different regions mediating its different effects. Acts by binding (via its C-terminal domain) to sequences related to the consensus octamer motif 5-ATGCAAAT-3 in the regulatory regions of its target genes. Regulates the expression of specific genes involved in differentiation and survival within a subset of neuronal lineages. It has been shown that activation of some of these genes requires its N-terminal domain, maybe through a neuronal-specific cofactor. Ativates BCL2 expression and protects neuronal cells from apoptosis (via the N-terminal domain). Induces neuronal process outgrowth and the coordinate expression of genes encoding synaptic proteins. Exerts its major developmental effects in somatosensory neurons and in brainstem nuclei involved in motor control. Stimulates the binding affinity of the nuclear estrogene receptor ESR1 to DNA estrogen response element (ERE), and hence modulates ESR1-induced transcriptional activity. May positively regulate POU4F2 and POU4F3. Regulates dorsal root ganglion sensory neuron specification and axonal projection into the spinal cord. Plays a role in TNFSF11-mediated terminal osteoclast differentiation. Negatively regulates its own expression interacting directly with a highly conserved autoregulatory domain surrounding the transcription initiation site.
UniProtKB/Swiss-Prot Function:
Isoform 2: Able to act as transcription factor, cannot regulate the expression of the same subset of genes than isoform 1. Does not have antiapoptotic effect on neuronal cells.

Gene Ontology (GO) - Molecular Function for POU4F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000980 RNA polymerase II distal enhancer sequence-specific DNA binding IEA,ISS --
GO:0000981 RNA polymerase II transcription factor activity, sequence-specific DNA binding IDA 23805044
GO:0001077 transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific binding IEA --
GO:0001205 transcriptional activator activity, RNA polymerase II distal enhancer sequence-specific binding IEA --
GO:0003677 DNA binding IEA --
genes like me logo Genes that share ontologies with POU4F1: view
genes like me logo Genes that share phenotypes with POU4F1: view

Animal Models for POU4F1 Gene

MGI Knock Outs for POU4F1:

Animal Model Products

CRISPR Products

miRNA for POU4F1 Gene

miRTarBase miRNAs that target POU4F1

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for POU4F1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

No data available for Enzyme Numbers (IUBMB) , Phenotypes From GWAS Catalog , Human Phenotype Ontology , Transcription Factor Targets and HOMER Transcription for POU4F1 Gene

Localization for POU4F1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POU4F1 Gene

Nucleus. Cytoplasm.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POU4F1 gene
Compartment Confidence
nucleus 5
cytoskeleton 2

Gene Ontology (GO) - Cellular Components for POU4F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IEA --
GO:0005634 nucleus ISS --
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm ISS --
GO:0043005 neuron projection IEA --
genes like me logo Genes that share ontologies with POU4F1: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for POU4F1 Gene

Pathways & Interactions for POU4F1 Gene

genes like me logo Genes that share pathways with POU4F1: view

Gene Ontology (GO) - Biological Process for POU4F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription from RNA polymerase II promoter ISS --
GO:0001967 suckling behavior IEA --
GO:0003223 ventricular compact myocardium morphogenesis IEA --
GO:0006351 transcription, DNA-templated IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
genes like me logo Genes that share ontologies with POU4F1: view

No data available for SIGNOR curated interactions for POU4F1 Gene

Drugs & Compounds for POU4F1 Gene

(3) Drugs for POU4F1 Gene - From: Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
genes like me logo Genes that share compounds with POU4F1: view

Transcripts for POU4F1 Gene

mRNA/cDNA for POU4F1 Gene

(1) REFSEQ mRNAs :
(1) Additional mRNA sequences :
(23) Selected AceView cDNA sequences:
(1) Ensembl transcripts including schematic representations, and UCSC links where relevant :

Unigene Clusters for POU4F1 Gene

POU class 4 homeobox 1:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

Clone Products

  • Applied Biological Materials Clones for POU4F1
  • Vectors and viruses for ORF, Lenti, Retro, Adenovirus, AAV, and more

Alternative Splicing Database (ASD) splice patterns (SP) for POU4F1 Gene

No ASD Table

Relevant External Links for POU4F1 Gene

GeneLoc Exon Structure for
POU4F1
ECgene alternative splicing isoforms for
POU4F1

Expression for POU4F1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POU4F1 Gene

mRNA differential expression in normal tissues according to GTEx for POU4F1 Gene

This gene is overexpressed in Testis (x15.3) and Brain - Spinal cord (cervical c-1) (x5.0).

NURSA nuclear receptor signaling pathways regulating expression of POU4F1 Gene:

POU4F1

SOURCE GeneReport for Unigene cluster for POU4F1 Gene:

Hs.654522

mRNA Expression by UniProt/SwissProt for POU4F1 Gene:

Q01851-PO4F1_HUMAN
Tissue specificity: Expressed in the brain and the retina. Present in the developing brain, spinal cord and eye.

Evidence on tissue expression from TISSUES for POU4F1 Gene

  • Eye(4.5)
  • Nervous system(2.2)
genes like me logo Genes that share expression patterns with POU4F1: view

Primer Products

No data available for Protein differential expression in normal tissues , Protein expression , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for POU4F1 Gene

Orthologs for POU4F1 Gene

This gene was present in the common ancestor of animals.

Orthologs for POU4F1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia POU4F1 33 34
  • 99.2 (n)
oppossum
(Monodelphis domestica)
Mammalia POU4F1 34
  • 97 (a)
OneToOne
rat
(Rattus norvegicus)
Mammalia Pou4f1 33
  • 96.35 (n)
mouse
(Mus musculus)
Mammalia Pou4f1 33 16 34
  • 94.03 (n)
tropical clawed frog
(Silurana tropicalis)
Amphibia LOC100488759 33
  • 78.14 (n)
African clawed frog
(Xenopus laevis)
Amphibia brn3a-A 33
zebrafish
(Danio rerio)
Actinopterygii pou4f1 33 34
  • 77.1 (n)
fruit fly
(Drosophila melanogaster)
Insecta acj6 35 34
  • 81 (a)
worm
(Caenorhabditis elegans)
Secernentea unc-86 35 34
  • 75 (a)
sea squirt
(Ciona savignyi)
Ascidiacea -- 34
  • 47 (a)
OneToMany
sea squirt
(Ciona intestinalis)
Ascidiacea Cin.3277 33
Species where no ortholog for POU4F1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • chicken (Gallus gallus)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • cow (Bos Taurus)
  • dog (Canis familiaris)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • lizard (Anolis carolinensis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for POU4F1 Gene

ENSEMBL:
Gene Tree for POU4F1 (if available)
TreeFam:
Gene Tree for POU4F1 (if available)

Paralogs for POU4F1 Gene

(6) SIMAP similar genes for POU4F1 Gene using alignment to 1 proteins:

genes like me logo Genes that share paralogs with POU4F1: view

Variants for POU4F1 Gene

Sequence variations from dbSNP and Humsavar for POU4F1 Gene

SNP ID Clin Chr 13 pos Sequence Context AA Info Type
rs1000118146 -- 78,603,591(+) CACCT(C/G)AGCCC intron-variant, upstream-variant-2KB
rs1000511431 -- 78,601,953(+) CCGCT(A/G)CCACC intron-variant, upstream-variant-2KB, reference, missense
rs1001511765 -- 78,600,712(+) GAGGT(C/G)AGAGA intron-variant, utr-variant-3-prime
rs1001542977 -- 78,600,399(+) TCGAC(A/C)TAAGA intron-variant, utr-variant-3-prime
rs1002416212 -- 78,604,352(+) GCCAC(C/T)TAGGA intron-variant, upstream-variant-2KB

Structural Variations from Database of Genomic Variants (DGV) for POU4F1 Gene

Variant ID Type Subtype PubMed ID
dgv234n27 CNV loss 19166990
dgv3268n54 CNV loss 21841781
dgv3269n54 CNV loss 21841781
dgv3270n54 CNV loss 21841781
dgv339n67 CNV gain 20364138
esv27337 CNV loss 19812545
nsv1097 CNV insertion 18451855
nsv1126347 CNV deletion 24896259
nsv562410 CNV loss 21841781
nsv562413 CNV loss 21841781
nsv826725 CNV gain 20364138
nsv826726 CNV gain 20364138

Variation tolerance for POU4F1 Gene

Residual Variation Intolerance Score: 30.6% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 4.12; 61.28% of all genes are more intolerant (likely to be disease-causing)

Relevant External Links for POU4F1 Gene

SNPedia medical, phenotypic, and genealogical associations of SNPs for
POU4F1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POU4F1 Gene

Disorders for POU4F1 Gene

MalaCards: The human disease database

(3) MalaCards diseases for POU4F1 Gene - From: DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
cervical cancer, somatic
  • cervical cancer
papilloma
  • papillomatosis
ewing sarcoma
  • neuroepithelioma
- elite association - COSMIC cancer census association via MalaCards

Relevant External Links for POU4F1

Atlas of Genetics and Cytogenetics in Oncology and Haematology:
POU4F1
genes like me logo Genes that share disorders with POU4F1: view

No data available for UniProtKB/Swiss-Prot and Genatlas for POU4F1 Gene

Publications for POU4F1 Gene

  1. The Brn-3 family of POU-domain factors: primary structure, binding specificity, and expression in subsets of retinal ganglion cells and somatosensory neurons. (PMID: 7623109) Xiang M … Nathans J (The Journal of neuroscience : the official journal of the Society for Neuroscience 1995) 3 4 22 60
  2. A novel POU homeodomain gene specifically expressed in cells of the developing mammalian nervous system. (PMID: 1357630) Collum RG … Moroy T (Nucleic acids research 1992) 2 3 4 60
  3. Differential regulation of different human papilloma virus variants by the POU family transcription factor Brn-3a. (PMID: 16247485) Ndisang D … Latchman DS (Oncogene 2006) 3 22 60
  4. The effects of Brn-3a on neuronal differentiation and apoptosis are differentially modulated by EWS and its oncogenic derivative EWS/Fli-1. (PMID: 15021903) Gascoyne DM … Latchman DS (Oncogene 2004) 3 22 60
  5. Detection of cervical neoplasia using measurement of Brn-3a in cervical smears with persistent minor abnormality. (PMID: 12911730) Sindos M … Latchman D (International journal of gynecological cancer : official journal of the International Gynecological Cancer Society 2003) 3 22 60

Products for POU4F1 Gene

Sources for POU4F1 Gene

Content
Loading form....