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

Summary

Official Symbol: POU4F1provided by HGNC
Official Full Name: POU class 4 homeobox 1provided by HGNC
Primary source: HGNC:HGNC:9218
See related: Ensembl:ENSG00000152192 MIM:601632; AllianceGenome:HGNC:9218
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; ATITHS; Oct-T1; brn-3A
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]
Expression: Low expression observed in reference dataset See more
Orthologs: mouse all
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Genomic context

Location:: 13q31.1

Exon count:: 3

Annotation release	Status	Assembly	Chr	Location
RS_2023_10	current	GRCh38.p14 (GCF_000001405.40)	13	NC_000013.11 (78598362..78603552, complement)
RS_2023_10	current	T2T-CHM13v2.0 (GCF_009914755.1)	13	NC_060937.1 (77824085..77829278, complement)
105.20220307	previous assembly	GRCh37.p13 (GCF_000001405.25)	13	NC_000013.10 (79172497..79177687, complement)

Chromosome 13 - NC_000013.11 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

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

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

HDAC2 Is Involved in the Regulation of BRN3A in Melanocytes and Melanoma.
Title: HDAC2 Is Involved in the Regulation of BRN3A in Melanocytes and Melanoma.
Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor.
Title: Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor.
No association between POU4F1, POU4F2, ISL1 polymorphisms and normal-tension glaucoma.
Title: No association between POU4F1, POU4F2, ISL1 polymorphisms and normal-tension glaucoma.
POU4F1 promotes the resistance of melanoma to BRAF inhibitors through MEK/ERK pathway activation and MITF up-regulation.
Title: POU4F1 promotes the resistance of melanoma to BRAF inhibitors through MEK/ERK pathway activation and MITF up-regulation.
POU4F1 confers trastuzumab resistance in HER2-positive breast cancer through regulating ERK1/2 signaling pathway.
Title: POU4F1 confers trastuzumab resistance in HER2-positive breast cancer through regulating ERK1/2 signaling pathway.
Brn3a/Pou4f1 Functions as a Tumor Suppressor by Targeting c-MET/STAT3 Signaling in Thyroid Cancer.
Title: Brn3a/Pou4f1 Functions as a Tumor Suppressor by Targeting c-MET/STAT3 Signaling in Thyroid Cancer.
Papillary thyroid carcinoma was characterized by high expression of ESR2 and AR, which was associated with expression and content of nuclear factors Brn-3A and TRIM16.
Title: Reception of Sex Steroid Hormones in Thyroid Papillary Cancer Tissue and Relationship with Expression and Content of Transcription Factors Brn-3α and TRIM16.
We report a case of a nine-year-old male who presented with facial nerve stimulation four years after cochlear implantation. A dilated internal auditory meatus was revealed. Genetic analysis demonstrated X-linked deafness type 2 (DFNX2) caused by a novel c.769C T nucleotide change in the POU domain, class 3, transcription factor 4 gene
Title: Facial nerve stimulation following cochlear implantation for X-linked stapes gusher syndrome leading to identification of a novel POU3F4 mutation.
Brn3a cooperates with activated RAS/RAF signalling by reducing oncogene-induced senescence in melanocytic tumourigenesis.
Title: The neural crest transcription factor Brn3a is expressed in melanoma and required for cell cycle progression and survival.
Data indicate that median methylation levels of BCAN, HOXD1, KCTD8, KLF11, NXPH1, POU4F1, SIM1, and TCF7L1 were >/=30% higher than in normal samples, representing potential biomarkers for tumor diagnosis.
Title: Genome-wide methylation screen in low-grade breast cancer identifies novel epigenetically altered genes as potential biomarkers for tumor diagnosis.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

Associated conditions

Description	Tests
Ataxia, intention tremor, and hypotonia syndrome, childhood-onset MedGen: C5543478 OMIM: 619352 GeneReviews: Not available	Compare labs

EBI GWAS Catalog

Description
Genome-wide association with MRI atrophy measures as a quantitative trait locus for Alzheimer's disease. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

Pou4f1 (e-PCR), detects polymorphism
- UniSTS:254228

D13S160 (e-PCR), detects polymorphism
- UniSTS:25622

SHGC-35779 (e-PCR)
- UniSTS:80723

RH17633 (e-PCR)
- UniSTS:71511

NoName (e-PCR)
- UniSTS:484695

POU4F1__1219 (e-PCR)
- UniSTS:277599

RH70862 (e-PCR)
- UniSTS:63339

NoName (e-PCR)
- UniSTS:495219

PMC125354P1 (e-PCR)
- UniSTS:270492

D13S160 (e-PCR), detects polymorphism
- UniSTS:34972

D13S160 (e-PCR), detects polymorphism
- UniSTS:8147

AFM185XA3 (e-PCR)
- UniSTS:14302

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables DNA-binding transcription activator activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IBA Inferred from Biological aspect of Ancestor more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA Inferred from Direct Assay more info	PubMed
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISA Inferred from Sequence Alignment more info
enables DNA-binding transcription factor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info
enables DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS Inferred from Sequence or Structural Similarity more info	PubMed
enables GTPase binding	IEA Inferred from Electronic Annotation more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA Inferred from Biological aspect of Ancestor more info
enables RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables RNA polymerase II-specific DNA-binding transcription factor binding	IEA Inferred from Electronic Annotation more info
enables chromatin binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables sequence-specific DNA binding	ISS Inferred from Sequence or Structural Similarity more info
enables sequence-specific double-stranded DNA binding	IDA Inferred from Direct Assay more info	PubMed
enables single-stranded DNA binding	ISS Inferred from Sequence or Structural Similarity more info

Process	Evidence Code	Pubs
involved_in axonogenesis	TAS Traceable Author Statement more info	PubMed
involved_in cell migration in hindbrain	IEA Inferred from Electronic Annotation more info
involved_in cellular response to cytokine stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in cellular response to estradiol stimulus	ISS Inferred from Sequence or Structural Similarity more info
involved_in central nervous system neuron differentiation	IEA Inferred from Electronic Annotation more info
involved_in habenula development	IEA Inferred from Electronic Annotation more info
involved_in heart development	ISS Inferred from Sequence or Structural Similarity more info
involved_in innervation	TAS Traceable Author Statement more info	PubMed
involved_in intrinsic apoptotic signaling pathway by p53 class mediator	ISS Inferred from Sequence or Structural Similarity more info
involved_in mesoderm development	IEA Inferred from Electronic Annotation more info
acts_upstream_of negative regulation of apoptotic process	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in negative regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of neuron apoptotic process	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of neuron apoptotic process	TAS Traceable Author Statement more info	PubMed
involved_in negative regulation of programmed cell death	ISS Inferred from Sequence or Structural Similarity more info
involved_in negative regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in neuron fate specification	ISS Inferred from Sequence or Structural Similarity more info
involved_in neuron migration	IEA Inferred from Electronic Annotation more info
involved_in neuron projection development	ISS Inferred from Sequence or Structural Similarity more info
involved_in peripheral nervous system neuron development	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of gene expression	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of neuron apoptotic process	IEA Inferred from Electronic Annotation more info
involved_in positive regulation of osteoclast differentiation	ISS Inferred from Sequence or Structural Similarity more info
involved_in positive regulation of transcription by RNA polymerase II	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in positive regulation of transcription regulatory region DNA binding	ISS Inferred from Sequence or Structural Similarity more info
involved_in proprioception involved in equilibrioception	IEA Inferred from Electronic Annotation more info
involved_in regulation of DNA-binding transcription factor activity	ISS Inferred from Sequence or Structural Similarity more info
acts_upstream_of_negative_effect regulation of cell cycle	ISS Inferred from Sequence or Structural Similarity more info	PubMed
involved_in regulation of cell cycle	ISS Inferred from Sequence or Structural Similarity more info
involved_in regulation of neurogenesis	IEA Inferred from Electronic Annotation more info
involved_in regulation of transcription by RNA polymerase II	IBA Inferred from Biological aspect of Ancestor more info
involved_in sensory system development	ISS Inferred from Sequence or Structural Similarity more info
involved_in suckling behavior	IEA Inferred from Electronic Annotation more info
involved_in synapse assembly	TAS Traceable Author Statement more info	PubMed
involved_in trigeminal nerve development	ISS Inferred from Sequence or Structural Similarity more info
involved_in ventricular compact myocardium morphogenesis	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of RNA polymerase II transcription regulator complex	IEA Inferred from Electronic Annotation more info
part_of chromatin	ISA Inferred from Sequence Alignment more info
located_in cytoplasm	ISS Inferred from Sequence or Structural Similarity more info
located_in neuron projection	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	ISS Inferred from Sequence or Structural Similarity more info

General protein information

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

Names: brain-specific homeobox/POU domain protein 3A; homeobox/POU domain protein RDC-1

NCBI Reference Sequences (RefSeq)

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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.