POU4F1 - POU class 4 homeobox 1 Gene

Also Known as BRN3A; RDC-1; ATITHS; Oct-T1; brn-3A

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 5457

About POU4F1

Cytogenetic location: 13q31.1 Genomic coordinates (GRCh38): 13:78,598,362-78,603,552 (from NCBI)

This gene has 1 transcript (splice variant), 176 orthologues, 17 paralogues and is associated with 2 phenotypes. Low expression observed in reference dataset.

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]

POU4F1 Products (1)

mRNA	Protein	Name
NM_006237.4	NP_006228.3	POU domain, class 4, transcription factor 1

Gene Ontology

Molecular Function
Biological Process

Molecular Function GO Annotation	Evidence	References	Source
enables DNA-binding transcription factor activity, RNA polymerase II-specific	IDA IDA: Inferred from direct assay	23805044	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	32296183	GOA
enables sequence-specific double-stranded DNA binding	IDA IDA: Inferred from direct assay	28473536	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in positive regulation of transcription by RNA polymerase II	IDA IDA: Inferred from direct assay	23805044	GOA
involved in positive regulation of transcription by RNA polymerase II	IGI IGI: Inferred from genetic interaction	23805044	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

POU4F1 Protein Structure

Pou

Homeobox

0
100
200
300
400
419 a.a.

Protein Preferred Names	Protein Names
POU domain, class 4, transcription factor 1	brain-specific homeobox/POU domain protein 3A

POU4F1 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	POU4F1	Q01851	MAPRE3	Homo sapiens	Q9UPY8	Validated Y2H	32296183

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	ATITHS
Nonarteritic Anterior Ischemic Optic Neuropathy	Anterior Ischemic Optic Neuropathy Nonarteritic Anterior Ischemic Optic Neuropathy, Susceptibility To NAION Non-Arteritic Anterior Ischemic Optic Neuropathy Ischemic Optic Neuropathy Aion Optic Neuropathy, Ischemic Naion, Susceptibility To Optic Neuropathy, Anterior Ischemic Optic Neuropathy, Anterior Ischemic, Susceptibility To Non-Arteritic Anterior Ischaemic Optic Neuropathy Nonarteritic Anterior Ischaemic Optic Neuropathy Neuropathy, Optic, Ischemic, Nonarteritic Anterior, Susceptibility To Ion - [Ischemic Optic Neuropathy] Neuropathic Ischaemia Of N.Opticus Ischaemic Neuropathy Of Optic Nerve
Ischemic Neuropathy	Ischemic Peripheral Neuropathy
Tremor	Medicament-Induced Tremor Medication-Induced Postural Tremor
Gallbladder Squamous Cell Carcinoma	Squamous Cell Carcinoma Of The Gallbladder Epidermoid Gallbladder Carcinoma
Retinal Ischemia
Acute Closed-Angle Glaucoma	Acute Angle-Closure Glaucoma
Papilloma	Papillomatosis
Hypotonia
Ocular Hypertension	Hypertension, Ocular Intraocular Pressure Increase Oh - [Ocular Hypertension] Oht - [Ocular Hypertension]
Cranial Nerve Disease	Cranial Nerve Disorder Disorder Of Cranial Nerve Cranial Nerve Diseases
Cervical Cancer	Cervical Cancer, Somatic Neoplasm Of Uterine Cervix Cervix Cancer Uterine Cervical Neoplasm Cervical Neoplasm Cervix Uteri Cancer Tumor Of The Cervix Uteri CERCA Uterine Cervical Cancer Neoplasms Cervical Uterine Cervical Neoplasms Cervical Cancers Cancer, Cervical, Somatic Malignant Tumor Of Cervix Cervix Carcinoma
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Familial Dysautonomia Riley-Day Syndrome Dysautonomia, Familial HSAN3 Hsan Iii Fd Hereditary Sensory And Autonomic Neuropathy Type Iii Dys Hereditary Sensory And Autonomic Neuropathy 3 Riley Day Syndrome Familial Autonomic Nervous Dysfunction Hereditary Sensory Autonomic Neuropathy Type Iii Hsan 3 Hsn 3 Hereditary Sensory Neuropathy Type 3 Hsan Type Iii Hsn-Iii Hereditary Sensory And Autonomic Neuropathy Type 3 Neuropathy, Hereditary Sensory And Autonomic, 3 Hsn Iii Dysautonomia Familial Neuropathy, Sensory And Autonomic, Hereditary, Type Iii Hsan3 - [Hereditary Sensory And Autonomic Neuropathy Type 3]
Optic Nerve Disease	Optic Neuropathy Disorder Of The Second Nerve Optic Nerve Disorder Optic Nerve Abnormality Of The Optic Nerve Optic Nerve Disorders Neuropathy, Optic Disorder Of The Optic Nerve
Intraocular Pressure Quantitative Trait Locus	Glaucoma IOPQTL Glaucoma, Susceptibility To Postinfectious Glaucoma Glaucoma With Ocular Inflammation Glaucoma Secondary To Eye Inflammation Traumatic Glaucoma Glaucoma With Concussion Of Globe Glaucoma Due To Ocular Trauma Glaucoma Associated With Ocular Trauma Glaucoma Secondary To Drugs
Central Retinal Artery Occlusion
Glaucoma, Normal Tension	Low Tension Glaucoma Glaucoma, Normal Tension, Susceptibility To Normal Tension Glaucoma Ntg Glaucoma, Normal Pressure NPG Glaucoma, Normal Pressure, Susceptibility To Poag/Npg - [Normal Pressure Primary Open-Angle Glaucoma]
Macular Degeneration, Age-Related, 1	Macular Degeneration Age-Related Macular Degeneration Macular Degeneration, Age-Related Age Related Macular Degeneration Age Related Macular Degeneration 1 ARMD1 Senile Macular Degeneration Maculopathy, Age-Related, 1 Macular Degeneration, Age-Related, Reduced Risk Of Age Related Maculopathy 1 Age Related Maculopathies Age Related Maculopathy Senile Macular Retinal Degeneration Macular Degeneration Of Retina Age-Related Maculopathy Amd Armd Age-Related Maculopathy, Susceptibility To Maculopathy Age-Related Macular Degeneration, Age-Related, 1, Susceptibility To Maculopathy, Age-Related Macular Degeneration, Age-Related, Type 1 Macular Degeneration, Age-Related, 2
Ewing Sarcoma	Neuroepithelioma Ewing'S Tumor Primitive Neuroectodermal Tumor Ewings Sarcoma Ewing'S Sarcoma Peripheral Neuroepithelioma ES Ewings Sarcoma-Primitive Neuroectodermal Tumor Localized Peripheral Primitive Neuroectodermal Tumor Peripheral Primitive Neuroectodermal Tumor Ewing Tumor Sarcoma, Ewing'S Ewing Family Of Tumors Extraosseous Ewing Tumor Askin Tumor Ewing'S Family Localized Tumor Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing Sarcoma Localized Ewing'S Sarcoma Localized Ewing'S Sarcoma/Peripheral Primitive Neuroectodermal Tumor Localized Ewing'S Tumor Pnet Of Thoracopulmonary Region Tumor Of The Ewing Family Skeletal Ewing Sarcoma Osseous Ewing Sarcoma Ppnet Peripheral Pnet Extraskeletal Ewing Sarcoma Eoe Extraosseous Ewing Sarcoma Extraskeletal Ewing Tumor Esft Ewing Sarcoma Family Of Tumors Pne Pnet Pnet Of The Chest Wall Sarcoma, Ewing Neuroectodermal Tumors, Primitive, Peripheral Neuroectodermal Tumor, Primitive Disorder Of Eye Askin'S Tumor Extraosseous Ewings Sarcoma-Primitive Neuroepithelial Tumor Neuroepithelioma, Peripheral
Glaucoma, Primary Open Angle	Glaucoma 1, Open Angle, E Primary Open Angle Glaucoma POAG Adult-Onset Primary Open Angle Glaucoma Chronic Simple Glaucoma GLC1E Primary Open Angle Glaucoma 1e Glaucoma, Open Angle, Primary
Leber Hereditary Optic Neuropathy, Modifier Of	Leber Optic Atrophy Leber Hereditary Optic Neuropathy LHON Leber'S Hereditary Optic Neuropathy Leber Optic Atrophy, Susceptibility To Leber'S Optic Atrophy LOAM Loas Leber'S Disease Leber'S Optic Neuropathy Optic Atrophy, Hereditary, Leber Lhon, Modifier Of Optic Atrophy, Leber Type Hereditary Optic Neuroretinopathy Leber Hereditary Optic Atrophy Loa Optic Atrophy Leber Type Leber Hereditary Optic Neuropathy, Modifier Leber Hereditary Optic Neuropathy Susceptibility Modifier Of Leber Hereditary Optic Neuropathy Lebers Hereditary Optic Neuropathy Leber Congenital Amaurosis
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Leber Plus Disease	Leber Congenital Amaurosis Lca Leber'S Amaurosis Leber'S Disease Amaurosis Congenita Of Leber Amaurosis Congenita Of Leber, Type 1 Lhon Plus Disease Congenital Absence Of The Rods And Cones Congenital Retinal Blindness Crb Congenital Amaurosis Of Retinal Origin Leber'S Congenital Amaurosis Leber Congenital Amaurosis 1 Leber'S Congenital Tapetoretinal Degeneration Leber'S Congenital Tapetoretinal Dysplasia Lca1 Leber Congenital Amaurosis Type 1 Retinal Blindness, Congenital Amaurosis, Leber Congenital Dysgenesis Neuroepithelialis Retinae Hereditary Epithelial Dysplasia Of Retina Hereditary Retinal Aplasia Heredoretinopathia Congenitalis Leber Abiotrophy Leber Congenital Tapetoretinal Degeneration Lebers Congenital Amaurosis Optic Atrophy, Hereditary, Leber
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS10904	POU4F1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21173	Pou4f1 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27690	Pou4f1 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Bos taurus	POU4F1	VGNC	VGNC:106873
Macaca mulatta	POU4F1	VGNC	VGNC:106286
Felis catus	POU4F1	VGNC	VGNC:102291
Mus musculus	POU4F1	MGD	MGI:102525
Rattus norvegicus	POU4F1	RGD	RGD:620074
Others	POU4F1	NCBI