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... See more...

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
  • POU Domain, Class 4, Transcription Factor 1 3 4
  • Homeobox/POU Domain Protein RDC-1 3 4
  • Oct-T1 3 4
  • Brn-3A 3 4
  • BRN3A 3 4
  • RDC-1 2 3
  • POU Domain Class 4, Transcription Factor 1 2
  • Brain-3A 4
  • POU4F1 5
  • 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 Ischemic Neuropathy and Nonarteritic Anterior Ischemic Optic Neuropathy. Among its related pathways are MECP2 and Associated Rett Syndrome and Gene Expression. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding. An important paralog of this gene is POU4F2.

UniProtKB/Swiss-Prot Summary 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 , Rfam classification and piRNA Summary for POU4F1 Gene

Genomics for POU4F1 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for POU4F1 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH13J078601 Promoter/Enhancer 1.5 EPDnew Ensembl ENCODE 609.3 +0.5 451 2.2 BRCA1 ARHGAP35 PRDM10 LARP7 PRDM1 ZSCAN4 RBFOX2 PKNOX1 RXRB POLR2A POU4F1 RBM26 ENSG00000271776 EDNRB OBI1-AS1
GH13J078657 Promoter/Enhancer 2 EPDnew Ensembl ENCODE CraniofacialAtlas 19.1 -55.4 -55448 3.6 HNRNPL GATAD2A TEAD4 PRDM10 ZNF629 ZNF512 ZNF692 POLR2A BACH1 LARP7 OBI1 POU4F1 RBM26 ENSG00000271776 piR-30350-018
GH13J078680 Enhancer 0.5 Ensembl 15.7 -77.0 -77049 0.4 POLR2A ZNF501 ZBTB44 ZSCAN5C OSR2 WT1 FEZF1 POU4F1 OBI1 RF00017-1459 piR-38580-080 RBM26
GH13J078646 Enhancer 0.7 ENCODE 11.1 -43.6 -43607 2 IKZF1 RCOR2 PHF21A RXRB SOX6 CTBP1 NCOR1 SPI1 MXD4 SMAD4 piR-30350-018 POU4F1 ENSG00000271776 OBI1
GH13J078129 Enhancer 0.6 Ensembl dbSUPER 10.9 +474.1 474051 0.2 FOXM1 HIC1 TRIM28 PKNOX1 POU4F1 EDNRB piR-48759-081 piR-55323 OBI1-AS1
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POU4F1 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for POU4F1

Top Transcription factor binding sites by QIAGEN in the POU4F1 gene promoter:
  • E2F
  • E2F-1
  • E2F-2
  • E2F-3a
  • E2F-4
  • E2F-5
  • Evi-1
  • S8
  • Sp1

Genomic Locations for POU4F1 Gene

Genomic Locations for POU4F1 Gene
chr13:78,598,362-78,603,552
(GRCh38/hg38)
Size:
5,191 bases
Orientation:
Minus strand
chr13:79,172,497-79,177,695
(GRCh37/hg19)
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; 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

Protein Domains for POU4F1 Gene

Suggested Antigen Peptide Sequences for POU4F1 Gene

GenScript: Design optimal peptide antigens:
  • Oct-T1 (PO4F1_HUMAN)

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 activity 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 activity 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

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.
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

Phenotypes From GWAS Catalog for POU4F1 Gene

Gene Ontology (GO) - Molecular Function for POU4F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000978 RNA polymerase II proximal promoter sequence-specific DNA binding IEA,ISS --
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific IEA,ISS --
GO:0001228 DNA-binding transcription activator activity, RNA polymerase II-specific IEA,IBA 21873635
GO:0003677 DNA binding IEA --
GO:0003682 chromatin 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

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POU4F1

No data available for Enzyme Numbers (IUBMB) , 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
plasma membrane 2
extracellular 2
cytoskeleton 2
mitochondrion 1
endoplasmic reticulum 1
endosome 1
cytosol 1
lysosome 1

Gene Ontology (GO) - Cellular Components for POU4F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin IEA,ISA --
GO:0005634 nucleus IBA,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

SIGNOR curated interactions for POU4F1 Gene

Activates:
Is activated by:

Gene Ontology (GO) - Biological Process for POU4F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IEA,ISS --
GO:0001967 suckling behavior IEA --
GO:0003223 ventricular compact myocardium morphogenesis IEA --
GO:0006355 regulation of transcription, DNA-templated IEA --
GO:0007275 multicellular organism development IEA --
genes like me logo Genes that share ontologies with POU4F1: view

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 :
5 NCBI additional mRNA sequence :
1 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for POU4F1

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

No ASD Table

Relevant External Links for POU4F1 Gene

GeneLoc Exon Structure for
POU4F1

Expression for POU4F1 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and 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).

Transcriptomic regulation report from SPP (The Signaling Pathways Project) for 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(4.6)
  • Nervous system(2.7)
  • Skin(2.2)
genes like me logo Genes that share expression patterns with POU4F1: view

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 30 31
  • 99.2 (n)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia POU4F1 31
  • 97 (a)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Pou4f1 30
  • 96.35 (n)
Mouse
(Mus musculus)
Mammalia Pou4f1 30 17 31
  • 94.03 (n)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia LOC100488759 30
  • 78.14 (n)
African clawed frog
(Xenopus laevis)
Amphibia brn3a-A 30
Zebrafish
(Danio rerio)
Actinopterygii pou4f1 30 31
  • 77.1 (n)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta acj6 31 32
  • 50 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea unc-86 31 32
  • 43 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 31
  • 47 (a)
OneToMany
Sea Vase
(Ciona intestinalis)
Ascidiacea Cin.3277 30
Species where no ortholog for POU4F1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium 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)
Aminode:
Evolutionary constrained regions (ECRs) for POU4F1: view image

Paralogs for POU4F1 Gene

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

  • PO4F1_HUMAN
genes like me logo Genes that share paralogs with POU4F1: view

Variants for POU4F1 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for POU4F1 Gene

SNP ID Clinical significance and condition Chr 13 pos Variation AA Info Type
729185 Likely Benign: not provided 78,603,197(-) C/A INTRON_VARIANT
rs1555286631 Uncertain Significance: not provided 78,602,541(-) T/TG FRAMESHIFT_VARIANT

Additional dbSNP identifiers (rs#s) for POU4F1 Gene

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)

Additional Variant Information 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

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

Disorder Aliases PubMed IDs
ischemic neuropathy
  • ischemic peripheral neuropathy
nonarteritic anterior ischemic optic neuropathy
  • nonarteritic anterior ischemic optic neuropathy, susceptibility to
acute closed-angle glaucoma
  • acute angle-closure glaucoma
thrombophlebitis migrans
optic nerve hypoplasia, bilateral
  • optic nerve hypoplasia
- elite association - COSMIC cancer census association via MalaCards
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 23
  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
  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 23
  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 23
  5. Functional interaction between the small GTP-binding protein Rin and the N-terminal of Brn-3a transcription factor. (PMID: 12934100) Calissano M … Latchman DS (Oncogene 2003) 3 4

Products for POU4F1 Gene

  • Biorbyt antibodies for POU4F1

Sources for POU4F1 Gene