POU4F1 POU class 4 homeobox 1 [Homo sapiens] - Gene

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Summary

Official Symbol: POU4F1provided by HGNC
Official Full Name: POU class 4 homeobox 1provided by HGNC
Primary source: HGNC:9218
See related: Ensembl:ENSG00000152192; HPRD:03379; MIM:601632; Vega:OTTHUMG00000017119
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: BRN3A; RDC-1; Oct-T1; brn-3A; FLJ13449
Summary: 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]

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Genomic context

Location :: 13q31.1

Sequence :: Chromosome: 13; NC_000013.10 (79173227..79177695, complement)

See POU4F1 in Epigenomics, MapViewer

Chromosome 13 - NC_000013.10 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

BRN3A possesses anti-apoptotic property, and considering the above results, it may be regarded as the key component in promoting tumorigenic growth in the uterine cervical cells.
Title: Molecular analysis of oncogenicity of the transcription factor, BRN3A, in cervical cancer cells.
Ewing sarcoma induce expression of neuronal markers such as BRN3A showing that the function of those same markers may be restricted or controlled in an sarcoma-dependent manner.
Title: EWS/ETS proteins promote expression and regulate function of the homeodomain transcription factor BRN3A.
Dysregulation of POU4F1 is associated with t(8;21) acute myeloid leukemia.
Title: POU4F1 is associated with t(8;21) acute myeloid leukemia and contributes directly to its unique transcriptional signature.
Hsp27 expression and cell survival are regulated by the POU transcription factor Brn3a
Title: Regulation of Hsp27 expression and cell survival by the POU transcription factor Brn3a.
Upregulation of Brn-3a is associated with prostate cancer
Title: Brn-3a neuronal transcription factor functional expression in human prostate cancer.
Brn-3a has a role in differential regulation of different human papilloma virus variants
Title: Differential regulation of different human papilloma virus variants by the POU family transcription factor Brn-3a.
genomic organization of the Brn-3a locus and the mechanisms that control the expression of two different proteins from one genomic locus
Title: Gene expression of the POU factor Brn-3a is regulated by two different promoters.
oncogenic rearrangement of EWS to produce EWS/Fli-1 may enhance the antiapoptotic effect of Brn-3a and inhibit its ability to promote neuronal differentiation.
Title: The effects of Brn-3a on neuronal differentiation and apoptosis are differentially modulated by EWS and its oncogenic derivative EWS/Fli-1.
These results indicate that Brn-3a could play an important role in the near future in improving cervical cancer screening.
Title: Detection of cervical neoplasia using measurement of Brn-3a in cervical smears with persistent minor abnormality.
Measurement of Brn-3a levels in smears can be used to detect a significant proportion of cervical lesions that were missed by Pap smear.
Title: Measurement of Brn-3a levels in Pap smears provides a novel diagnostic marker for the detection of cervical neoplasia.

Submit: New GeneRIF Correction

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease.

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Products	Interactant	Other Gene	Source	Pubs	Description
Q01851	P03372	ESR1	HPRD	PubMed
Q01851	Q01844	EWSR1	HPRD	PubMed
Q01851	Q99578	RIT2	HPRD	PubMed
BioGRID:111453	BioGRID:108403	ESR1	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:111453	BioGRID:108431	EWSR1	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:111453	BioGRID:111946	RIT2	BioGRID	PubMed	Reconstituted Complex; Two-hybrid

Function	Evidence Code	Pubs
RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	IEA Inferred from Electronic Annotation more info
RNA polymerase II distal enhancer sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
sequence-specific DNA binding	IEA Inferred from Electronic Annotation more info
sequence-specific DNA binding transcription factor activity	IEA Inferred from Electronic Annotation more info
sequence-specific distal enhancer binding RNA polymerase II transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
axonogenesis	TAS Traceable Author Statement more info	PubMed
cell migration in hindbrain	IEA Inferred from Electronic Annotation more info
central nervous system neuron differentiation	IEA Inferred from Electronic Annotation more info
habenula development	IEA Inferred from Electronic Annotation more info
innervation	TAS Traceable Author Statement more info	PubMed
mesoderm development	IEA Inferred from Electronic Annotation more info
multicellular organismal development	IEA Inferred from Electronic Annotation more info
negative regulation of neuron apoptosis	TAS Traceable Author Statement more info	PubMed
negative regulation of transcription from RNA polymerase II promoter	ISS Inferred from Sequence or Structural Similarity more info
neuron fate specification	ISS Inferred from Sequence or Structural Similarity more info
peripheral nervous system neuron development	ISS Inferred from Sequence or Structural Similarity more info
positive regulation of apoptotic process	IEA Inferred from Electronic Annotation more info
positive regulation of transcription from RNA polymerase II promoter	ISS Inferred from Sequence or Structural Similarity more info
proprioception involved in equilibrioception	IEA Inferred from Electronic Annotation more info
regulation of neurogenesis	IEA Inferred from Electronic Annotation more info
sensory system development	ISS Inferred from Sequence or Structural Similarity more info
suckling behavior	IEA Inferred from Electronic Annotation more info
synapse assembly	TAS Traceable Author Statement more info	PubMed
trigeminal nerve development	ISS Inferred from Sequence or Structural Similarity more info
ventricular compact myocardium morphogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
neuron projection	IEA Inferred from Electronic Annotation more info
nuclear chromatin	IEA Inferred from Electronic Annotation more info
nucleus	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: POU domain, class 4, transcription factor 1

Names: POU domain, class 4, transcription factor 1; brain-3A; homeobox/POU domain protein RDC-1; brain-specific homeobox/POU domain protein 3A

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NCBI Reference Sequences (RefSeq)

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)

NM_006237.3 → NP_006228.3 POU domain, class 4, transcription factor 1

Status: REVIEWED

Source sequence(s)

AL445209, BM714015, BM726529, L20433, N74107

Consensus CDS

CCDS31996.1

UniProtKB/Swiss-Prot

Q01851

Related

ENSP00000366413, OTTHUMP00000018535, ENST00000377208, OTTHUMT00000045360

Conserved Domains (2) summary

cd00086
Location:356 – 414
Blast Score: 152

homeodomain; Homeodomain; DNA binding domains involved in the transcriptional regulation of key eukaryotic developmental processes; may bind to DNA as monomers or as homo- and/or heterodimers, in a sequence-specific manner.

cl02582
Location:260 – 337
Blast Score: 366

Pou; Pou domain - N-terminal to homeobox domain

RefSeqs of Annotated Genomes: Build 37.3

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

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000013.10 Reference GRCh37.p5 Primary Assembly

Range

79173227..79177695, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000145.1 Alternate HuRef

Range

59873428..59878003, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AL445209.4	CAI15184.1
genomic	CH471093.1	EAW80584.1
		EAW80585.1
genomic	U10063.1	AAA57161.1
mRNA	BM714015.1	None
mRNA	BM726529.1	None
mRNA	L20433.1	AAA65605.1
mRNA	N74107.1	None
mRNA	X64624.1	CAA45907.1
other-genetic	BC148330.1	AAI48331.1
other-genetic	BC148792.1	AAI48793.1