• Gene id: 5457

Gene Summary

• Gene Symbol: POU4F1   Gene   UCSC   Ensembl
• Aliases: BRN3A, Oct-T1, RDC-1, brn-3A
• Gene name: POU class 4 homeobox 1
• Alternate names: POU domain, class 4, transcription factor 1, brain-specific homeobox/POU domain protein 3A, homeobox/POU domain protein RDC-1,
• Gene location: 13q31.1 (78603551: 78598361)     Exons: 2     NC_000013.11
• Gene summary(Entrez): 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 cervi
• OMIM: 612831

Protein Summary

• Protein general information: Q01851  
  • Name: POU domain, class 4, transcription factor 1 (Brain specific homeobox/POU domain protein 3A) (Brain 3A) (Brn 3A) (Homeobox/POU domain protein RDC 1) (Oct T1)
  • Length: 419  
  • Mass: 42697
  • Tissue specificity: Expressed in the brain and the retina. Present in the developing brain, spinal cord and eye. {ECO
• Sequence:

  MMSMNSKQPHFAMHPTLPEHKYPSLHSSSEAIRRACLPTPPLQSNLFASLDETLLARAEALAAVDIAVSQGKSHP
  FKPDATYHTMNSVPCTSTSTVPLAHHHHHHHHHQALEPGDLLDHISSPSLALMAGAGGAGAAAGGGGAHDGPGGG
  GGPGGGGGPGGGPGGGGGGGPGGGGGGPGGGLLGGSAHPHPHMHSLGHLSHPAAAAAMNMPSGLPHPGLVAAAAH
  HGAAAAAAAAAAGQVAAASAAAAVVGAAGLASICDSDTDPRELEAFAERFKQRRIKLGVTQADVGSALANLKIPG
  VGSLSQSTICRFESLTLSHNNMIALKPILQAWLEEAEGAQREKMNKPELFNGGEKKRKRTSIAAPEKRSLEAYFA
  VQPRPSSEKIAAIAEKLDLKKNVVRVWFCNQRQKQKRMKFSATY

• Structural information:
  • Protein Domains: (261..33-)
    (/note="POU-specific-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00530"-)
  • Interpro: IPR001387  IPR009057  IPR017970  IPR001356  IPR010982   IPR013847  IPR015584  IPR000327  
  • Prosite: PS00027 PS50071 PS00035 PS00465 PS51179
  • CDD: cd00086 cd00093
  • STRING: ENSP00000366413
• Other Databases: GeneCards:  POU4F1  Malacards:  POU4F1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0007507	heart development	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0045672	positive regulation of osteoclast differentiation	ISS	biological process
GO:0031175	neuron projection development	ISS	biological process
GO:2000679	positive regulation of transcription regulatory region DNA binding	ISS	biological process
GO:0071392	cellular response to estradiol stimulus	ISS	biological process
GO:0051090	regulation of DNA-binding transcription factor activity	ISS	biological process
GO:0072332	intrinsic apoptotic signaling pathway by p53 class mediator	ISS	biological process
GO:0043069	negative regulation of programmed cell death	ISS	biological process
GO:0043524	negative regulation of neuron apoptotic process	ISS	biological process
GO:0003697	single-stranded DNA binding	ISS	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0071345	cellular response to cytokine stimulus	ISS	biological process
GO:0003714	transcription corepressor activity	ISS	molecular function
GO:0003713	transcription coactivator activity	ISS	molecular function
GO:0071158	positive regulation of cell cycle arrest	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007409	axonogenesis	TAS	biological process
GO:0007416	synapse assembly	TAS	biological process
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:2001208	negative regulation of transcription elongation by RNA polymerase I	IEA	biological process
GO:2000679	positive regulation of transcription regulatory region DNA binding	IEA	biological process
GO:0090575	RNA polymerase II transcription regulator complex	IEA	cellular component
GO:0072332	intrinsic apoptotic signaling pathway by p53 class mediator	IEA	biological process
GO:0071392	cellular response to estradiol stimulus	IEA	biological process
GO:0051355	proprioception involved in equilibrioception	IEA	biological process
GO:0051090	regulation of DNA-binding transcription factor activity	IEA	biological process
GO:0048934	peripheral nervous system neuron differentiation	IEA	biological process
GO:0045672	positive regulation of osteoclast differentiation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043069	negative regulation of programmed cell death	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0031175	neuron projection development	IEA	biological process
GO:0021986	habenula development	IEA	biological process
GO:0021559	trigeminal nerve development	IEA	biological process
GO:0021535	cell migration in hindbrain	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
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:0071345	cellular response to cytokine stimulus	IEA	biological process
GO:0071158	positive regulation of cell cycle arrest	IEA	biological process
GO:0060384	innervation	IEA	biological process
GO:0051020	GTPase binding	IEA	molecular function
GO:0050767	regulation of neurogenesis	IEA	biological process
GO:0048935	peripheral nervous system neuron development	IEA	biological process
GO:0048880	sensory system development	IEA	biological process
GO:0048665	neuron fate specification	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0021953	central nervous system neuron differentiation	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0007498	mesoderm development	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003714	transcription corepressor activity	IEA	molecular function
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0003697	single-stranded DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003223	ventricular compact myocardium morphogenesis	IEA	biological process
GO:0001967	suckling behavior	IEA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS	molecular function
GO:0021559	trigeminal nerve development	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0007409	axonogenesis	TAS	biological process
GO:0043524	negative regulation of neuron apoptotic process	TAS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0048665	neuron fate specification	ISS	biological process
GO:0048880	sensory system development	ISS	biological process
GO:0048935	peripheral nervous system neuron development	ISS	biological process
GO:0060384	innervation	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0007507	heart development	ISS	biological process
GO:0010629	negative regulation of gene expression	ISS	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISM	molecular function
GO:0000790	nuclear chromatin	ISA	cellular component
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA	molecular function
GO:0001228	DNA-binding transcription activator activity, RNA polymerase II-specific	IBA	molecular function
GO:0030154	cell differentiation	IBA	biological process
GO:0005634	nucleus	IBA	cellular component
GO:0045944	positive regulation of transcription by RNA polymerase II	IBA	biological process
GO:0043565	sequence-specific DNA binding	ISS	molecular function
GO:0010628	positive regulation of gene expression	ISS	biological process
GO:0045672	positive regulation of osteoclast differentiation	ISS	biological process
GO:0031175	neuron projection development	ISS	biological process
GO:2000679	positive regulation of transcription regulatory region DNA binding	ISS	biological process
GO:0071392	cellular response to estradiol stimulus	ISS	biological process
GO:0051090	regulation of DNA-binding transcription factor activity	ISS	biological process
GO:0072332	intrinsic apoptotic signaling pathway by p53 class mediator	ISS	biological process
GO:0043069	negative regulation of programmed cell death	ISS	biological process
GO:0043524	negative regulation of neuron apoptotic process	ISS	biological process
GO:0003697	single-stranded DNA binding	ISS	molecular function
GO:0005737	cytoplasm	ISS	cellular component
GO:0005634	nucleus	ISS	cellular component
GO:0071345	cellular response to cytokine stimulus	ISS	biological process
GO:0003714	transcription corepressor activity	ISS	molecular function
GO:0003713	transcription coactivator activity	ISS	molecular function
GO:0071158	positive regulation of cell cycle arrest	ISS	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0003677	DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0007275	multicellular organism development	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0007409	axonogenesis	TAS	biological process
GO:0007416	synapse assembly	TAS	biological process
GO:1901796	regulation of signal transduction by p53 class mediator	TAS	biological process
GO:0005654	nucleoplasm	TAS	cellular component
GO:0005515	protein binding	IPI	molecular function
GO:2001208	negative regulation of transcription elongation by RNA polymerase I	IEA	biological process
GO:2000679	positive regulation of transcription regulatory region DNA binding	IEA	biological process
GO:0090575	RNA polymerase II transcription regulator complex	IEA	cellular component
GO:0072332	intrinsic apoptotic signaling pathway by p53 class mediator	IEA	biological process
GO:0071392	cellular response to estradiol stimulus	IEA	biological process
GO:0051355	proprioception involved in equilibrioception	IEA	biological process
GO:0051090	regulation of DNA-binding transcription factor activity	IEA	biological process
GO:0048934	peripheral nervous system neuron differentiation	IEA	biological process
GO:0045672	positive regulation of osteoclast differentiation	IEA	biological process
GO:0043565	sequence-specific DNA binding	IEA	molecular function
GO:0043069	negative regulation of programmed cell death	IEA	biological process
GO:0043066	negative regulation of apoptotic process	IEA	biological process
GO:0043005	neuron projection	IEA	cellular component
GO:0031175	neuron projection development	IEA	biological process
GO:0021986	habenula development	IEA	biological process
GO:0021559	trigeminal nerve development	IEA	biological process
GO:0021535	cell migration in hindbrain	IEA	biological process
GO:0010628	positive regulation of gene expression	IEA	biological process
GO:0003700	DNA-binding transcription factor activity	IEA	molecular function
GO:0003682	chromatin binding	IEA	molecular function
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:0071345	cellular response to cytokine stimulus	IEA	biological process
GO:0071158	positive regulation of cell cycle arrest	IEA	biological process
GO:0060384	innervation	IEA	biological process
GO:0051020	GTPase binding	IEA	molecular function
GO:0050767	regulation of neurogenesis	IEA	biological process
GO:0048935	peripheral nervous system neuron development	IEA	biological process
GO:0048880	sensory system development	IEA	biological process
GO:0048665	neuron fate specification	IEA	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	IEA	biological process
GO:0043524	negative regulation of neuron apoptotic process	IEA	biological process
GO:0043065	positive regulation of apoptotic process	IEA	biological process
GO:0030182	neuron differentiation	IEA	biological process
GO:0021953	central nervous system neuron differentiation	IEA	biological process
GO:0010629	negative regulation of gene expression	IEA	biological process
GO:0007507	heart development	IEA	biological process
GO:0007498	mesoderm development	IEA	biological process
GO:0007399	nervous system development	IEA	biological process
GO:0006355	regulation of transcription, DNA-templated	IEA	biological process
GO:0005737	cytoplasm	IEA	cellular component
GO:0005634	nucleus	IEA	cellular component
GO:0003714	transcription corepressor activity	IEA	molecular function
GO:0003713	transcription coactivator activity	IEA	molecular function
GO:0003697	single-stranded DNA binding	IEA	molecular function
GO:0003677	DNA binding	IEA	molecular function
GO:0003223	ventricular compact myocardium morphogenesis	IEA	biological process
GO:0001967	suckling behavior	IEA	biological process
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA	molecular function
GO:0000790	nuclear chromatin	IEA	cellular component
GO:0000122	negative regulation of transcription by RNA polymerase II	IEA	biological process
GO:0000978	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS	molecular function
GO:0000981	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS	molecular function
GO:0021559	trigeminal nerve development	ISS	biological process
GO:0000122	negative regulation of transcription by RNA polymerase II	ISS	biological process
GO:0007409	axonogenesis	TAS	biological process
GO:0043524	negative regulation of neuron apoptotic process	TAS	biological process
GO:0045944	positive regulation of transcription by RNA polymerase II	ISS	biological process
GO:0048665	neuron fate specification	ISS	biological process
GO:0048880	sensory system development	ISS	biological process
GO:0048935	peripheral nervous system neuron development	ISS	biological process
GO:0060384	innervation	TAS	biological process
GO:0005634	nucleus	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component

Diseases

Associated diseases	References
Aberrant CpGs in Low Motility Sperm	MIK: 21674046

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
21674046	Aberrant CpGs in Low Motility Sperm			18	Male infertility	GSE26881