POU4F1 (POU class 4 homeobox 1)

Gene

• Entrez ID: 5457
• Gene name: POU class 4 homeobox 1
• Gene symbol: POU4F1
• Synonyms (NCBI Gene): ATITHS, BRN3A, Oct-T1, RDC-1, brn-3A
• Chromosome: 13
• Chromosome location: 13q31.1
• 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 cervi

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT030102	hsa-miR-26b-5p	Microarray	19088304
MIRT046165	hsa-miR-30b-5p	CLASH	23622248
MIRT1250995	hsa-miR-1185	CLIP-seq
MIRT1250996	hsa-miR-1246	CLIP-seq
MIRT1250997	hsa-miR-1276	CLIP-seq
MIRT1250998	hsa-miR-132	CLIP-seq
MIRT1250999	hsa-miR-2052	CLIP-seq
MIRT1251000	hsa-miR-212	CLIP-seq
MIRT1251001	hsa-miR-2467-3p	CLIP-seq
MIRT1251002	hsa-miR-3121-5p	CLIP-seq
MIRT1251003	hsa-miR-3125	CLIP-seq
MIRT1251004	hsa-miR-3127-3p	CLIP-seq
MIRT1251005	hsa-miR-3140-3p	CLIP-seq
MIRT1251006	hsa-miR-3201	CLIP-seq
MIRT1251007	hsa-miR-3612	CLIP-seq
MIRT1251008	hsa-miR-3663-5p	CLIP-seq
MIRT1251009	hsa-miR-3679-5p	CLIP-seq
MIRT1251010	hsa-miR-3685	CLIP-seq
MIRT1251011	hsa-miR-375	CLIP-seq
MIRT1251012	hsa-miR-384	CLIP-seq
MIRT1251013	hsa-miR-3916	CLIP-seq
MIRT1251014	hsa-miR-3943	CLIP-seq
MIRT1251015	hsa-miR-4261	CLIP-seq
MIRT1251016	hsa-miR-4273	CLIP-seq
MIRT1251017	hsa-miR-4307	CLIP-seq
MIRT1251018	hsa-miR-4311	CLIP-seq
MIRT1251019	hsa-miR-4496	CLIP-seq
MIRT1251020	hsa-miR-4511	CLIP-seq
MIRT1251021	hsa-miR-455-3p	CLIP-seq
MIRT1251022	hsa-miR-4652-3p	CLIP-seq
MIRT1251023	hsa-miR-4677-5p	CLIP-seq
MIRT1251024	hsa-miR-4791	CLIP-seq
MIRT1251025	hsa-miR-548b-3p	CLIP-seq
MIRT1251026	hsa-miR-583	CLIP-seq
MIRT1251027	hsa-miR-595	CLIP-seq
MIRT1251028	hsa-miR-650	CLIP-seq
MIRT1251029	hsa-miR-935	CLIP-seq
MIRT2074091	hsa-miR-1305	CLIP-seq
MIRT1251011	hsa-miR-375	CLIP-seq
MIRT1251016	hsa-miR-4273	CLIP-seq
MIRT1251022	hsa-miR-4652-3p	CLIP-seq
MIRT1251023	hsa-miR-4677-5p	CLIP-seq
MIRT2074092	hsa-miR-579	CLIP-seq
MIRT2301092	hsa-miR-151-3p	CLIP-seq
MIRT2301093	hsa-miR-2682	CLIP-seq
MIRT2301094	hsa-miR-3689d	CLIP-seq
MIRT2301095	hsa-miR-411	CLIP-seq
MIRT2301096	hsa-miR-4463	CLIP-seq
MIRT2301097	hsa-miR-4499	CLIP-seq
MIRT2301098	hsa-miR-449c	CLIP-seq
MIRT2301099	hsa-miR-4514	CLIP-seq
MIRT2301100	hsa-miR-4692	CLIP-seq
MIRT2074092	hsa-miR-579	CLIP-seq
MIRT2301101	hsa-miR-936	CLIP-seq
MIRT2456943	hsa-miR-1972	CLIP-seq
MIRT2456944	hsa-miR-3667-3p	CLIP-seq
MIRT2456945	hsa-miR-3679-3p	CLIP-seq
MIRT2456946	hsa-miR-4286	CLIP-seq
MIRT2456947	hsa-miR-4700-3p	CLIP-seq
MIRT2456948	hsa-miR-4717-5p	CLIP-seq
MIRT2456943	hsa-miR-1972	CLIP-seq
MIRT2456947	hsa-miR-4700-3p	CLIP-seq
MIRT2456948	hsa-miR-4717-5p	CLIP-seq
MIRT2597662	hsa-miR-1293	CLIP-seq
MIRT2456943	hsa-miR-1972	CLIP-seq
MIRT2597663	hsa-miR-3123	CLIP-seq
MIRT2597664	hsa-miR-3919	CLIP-seq
MIRT1251018	hsa-miR-4311	CLIP-seq
MIRT2597665	hsa-miR-4483	CLIP-seq
MIRT2597666	hsa-miR-4506	CLIP-seq
MIRT2456947	hsa-miR-4700-3p	CLIP-seq
MIRT2456948	hsa-miR-4717-5p	CLIP-seq
MIRT2597667	hsa-miR-4756-3p	CLIP-seq
MIRT2597668	hsa-miR-765	CLIP-seq
MIRT2456943	hsa-miR-1972	CLIP-seq
MIRT2456947	hsa-miR-4700-3p	CLIP-seq
MIRT2456948	hsa-miR-4717-5p	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
EWSR1	Unknown	15021903

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	IEA
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS	18421303
GO:0000785	Component	Chromatin	IEA
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IEA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	ISS
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IBA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IDA	23805044
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	IEA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	IEA
GO:0001227	Function	DNA-binding transcription repressor activity, RNA polymerase II-specific	ISS	18421303
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	IEA
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS	18421303
GO:0001764	Process	Neuron migration	IEA
GO:0001967	Process	Suckling behavior	IEA
GO:0003223	Process	Ventricular compact myocardium morphogenesis	IEA
GO:0003677	Function	DNA binding	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003697	Function	Single-stranded DNA binding	IEA
GO:0003697	Function	Single-stranded DNA binding	ISS
GO:0003700	Function	DNA-binding transcription factor activity	IEA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	ISS
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006355	Process	Regulation of DNA-templated transcription	IEA
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA
GO:0007399	Process	Nervous system development	IEA
GO:0007409	Process	Axonogenesis	TAS	8995448, 17239249
GO:0007416	Process	Synapse assembly	TAS	8995448
GO:0007498	Process	Mesoderm development	IEA
GO:0007507	Process	Heart development	IEA
GO:0007507	Process	Heart development	ISS
GO:0010628	Process	Positive regulation of gene expression	IEA
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0010629	Process	Negative regulation of gene expression	IEA
GO:0010629	Process	Negative regulation of gene expression	ISS
GO:0021535	Process	Cell migration in hindbrain	IEA
GO:0021559	Process	Trigeminal nerve development	IEA
GO:0021559	Process	Trigeminal nerve development	ISS
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0021986	Process	Habenula development	IEA
GO:0030182	Process	Neuron differentiation	IEA
GO:0031175	Process	Neuron projection development	IEA
GO:0031175	Process	Neuron projection development	ISS
GO:0043005	Component	Neuron projection	IEA
GO:0043066	Process	Negative regulation of apoptotic process	IEA
GO:0043066	Process	Negative regulation of apoptotic process	ISS	18421303
GO:0043069	Process	Negative regulation of programmed cell death	IEA
GO:0043069	Process	Negative regulation of programmed cell death	ISS
GO:0043524	Process	Negative regulation of neuron apoptotic process	IEA
GO:0043524	Process	Negative regulation of neuron apoptotic process	ISS
GO:0043524	Process	Negative regulation of neuron apoptotic process	TAS	17239249
GO:0043525	Process	Positive regulation of neuron apoptotic process	IEA
GO:0043565	Function	Sequence-specific DNA binding	IEA
GO:0043565	Function	Sequence-specific DNA binding	ISS
GO:0045672	Process	Positive regulation of osteoclast differentiation	IEA
GO:0045672	Process	Positive regulation of osteoclast differentiation	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IDA	23805044
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IGI	23805044
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS	18421303
GO:0048665	Process	Neuron fate specification	IEA
GO:0048665	Process	Neuron fate specification	ISS
GO:0048880	Process	Sensory system development	IEA
GO:0048880	Process	Sensory system development	ISS
GO:0048934	Process	Peripheral nervous system neuron differentiation	IEA
GO:0048935	Process	Peripheral nervous system neuron development	IEA
GO:0048935	Process	Peripheral nervous system neuron development	ISS
GO:0050767	Process	Regulation of neurogenesis	IEA
GO:0051020	Function	GTPase binding	IEA
GO:0051090	Process	Regulation of DNA-binding transcription factor activity	ISS
GO:0051355	Process	Proprioception involved in equilibrioception	IEA
GO:0051402	Process	Neuron apoptotic process	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0051726	Process	Regulation of cell cycle	ISS	18421303
GO:0051726	Process	Regulation of cell cycle	ISS
GO:0060384	Process	Innervation	IEA
GO:0060384	Process	Innervation	TAS	17239249
GO:0061629	Function	RNA polymerase II-specific DNA-binding transcription factor binding	IEA
GO:0071345	Process	Cellular response to cytokine stimulus	IEA
GO:0071345	Process	Cellular response to cytokine stimulus	ISS
GO:0071392	Process	Cellular response to estradiol stimulus	IEA
GO:0071392	Process	Cellular response to estradiol stimulus	ISS
GO:0072332	Process	Intrinsic apoptotic signaling pathway by p53 class mediator	IEA
GO:0072332	Process	Intrinsic apoptotic signaling pathway by p53 class mediator	ISS
GO:0090575	Component	RNA polymerase II transcription regulator complex	IEA
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000679	Process	Positive regulation of transcription regulatory region DNA binding	ISS

Other IDs

• MIM: 601632
• HGNC: 9218
• e!Ensembl: ENSG00000152192

Protein

• UniProt ID: Q01851
• Protein 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)
• Protein 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 g
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00157	Pou	263 → 337	Pou domain - N-terminal to homeobox domain	Domain
  PF00046	Homeodomain	356 → 412	Homeodomain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Expressed in the brain and the retina. Present in the developing brain, spinal cord and eye. {ECO:0000269|PubMed:1357630, ECO:0000269|PubMed:7623109}.
• Sequence:

  MMSMNSKQPHFAMHPTLPEHKYPSLHSSSEAIRRACLPTPPLQSNLFASLDETLLARAEA
  LAAVDIAVSQGKSHPFKPDATYHTMNSVPCTSTSTVPLAHHHHHHHHHQALEPGDLLDHI
  SSPSLALMAGAGGAGAAAGGGGAHDGPGGGGGPGGGGGPGGGPGGGGGGGPGGGGGGPGG
  GLLGGSAHPHPHMHSLGHLSHPAAAAAMNMPSGLPHPGLVAAAAHHGAAAAAAAAAAGQV
  AAASAAAAVVGAAGLASICDSDTDPRELEAFAERFKQRRIKLGVTQADVGSALANLKIPG
  VGSLSQSTICRFESLTLSHNNMIALKPILQAWLEEAEGAQREKMNKPELFNGGEKKRKRT
  SIAAPEKRSLEAYFAVQPRPSSEKIAAIAEKLDLKKNVVRVWFCNQRQKQKRMKFSATY

• Sequence length: 419

Pathways

Reactome:

Regulation of TP53 Activity through Association with Co-factors

Associated diseases

Evidence Score:

• ★☆☆☆☆  Gene-disease association found in Text Mining only
• ★★☆☆☆  Found in Text Mining and Unknown/Other Associations
• ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources
• ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants)
• ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Ataxia, intention tremor, and hypotonia syndrome, childhood-onset	Pathogenic; Likely pathogenic	rs2137404831, rs2137404878, rs2500902141, rs2500899195, rs1874704791, rs1874754405	RCV001507292 RCV001507293 RCV003156410 RCV003989471 RCV001507290 RCV001507291	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CEREBELLAR DYSFUNCTION WITH VARIABLE COGNITIVE AND BEHAVIORAL ABNORMALITIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CERVICAL DYSPLASIA	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LEUKEMIA, MYELOID, ACUTE	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POU4F1-related disorder	Conflicting classifications of pathogenicity; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE CERVICAL DYSPLASIA	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UTERINE CERVICAL NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
ACTH-Secreting Pituitary Adenoma	Pituitary adenoma	BEFREE	8989239		★☆☆☆☆ Found in Text Mining only
Acute monocytic leukemia	Monocytic Leukemia	BEFREE	20376082		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia (AML-M2)	Leukemia	CTD_human_DG	18206229		★☆☆☆☆ Found in Text Mining only
Acute Myeloid Leukemia, M1	Myeloid Leukemia	CTD_human_DG	18206229		★☆☆☆☆ Found in Text Mining only
Adrenal Gland Pheochromocytoma	Adrenal Gland Pheochromocytoma	BEFREE	20483910		★☆☆☆☆ Found in Text Mining only
Adult Medulloblastoma	Medulloblastoma	BEFREE	18086126		★☆☆☆☆ Found in Text Mining only
Aortic Aneurysm Abdominal	Aortic aneurysm	Pubtator	35193936	Associate	★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	33783914	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	CTD_human_DG	20190800		★☆☆☆☆ Found in Text Mining only
Carcinoma in situ of uterine cervix	Cervical Intraepithelial Neoplasia	BEFREE	9541499		★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	33783914	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	12911730, 9541499		★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	CTD_human_DG	21928122		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	20190800		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	CTD_human_DG	20190800		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	12911730, 20190800		★☆☆☆☆ Found in Text Mining only
Childhood Medulloblastoma	Medulloblastoma	BEFREE	18086126		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	32351322, 33203797	Associate	★☆☆☆☆ Found in Text Mining only
Congenital chromosomal disease	Congenital Chromosomal Disease	BEFREE	12118328		★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus	Diabetes Mellitus	BEFREE	28431433		★☆☆☆☆ Found in Text Mining only
leukemia	Leukemia	BEFREE	20376082		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	CTD_human_DG	18206229		★☆☆☆☆ Found in Text Mining only
Leukemia, Myelocytic, Acute	Leukemia	BEFREE	20376082, 20460523		★☆☆☆☆ Found in Text Mining only
Leukostasis	Leukostasis	BEFREE	27399806		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	21778049		★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	15818685	Stimulate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus, Systemic	Lupus Erythematosus	BEFREE	15818685, 25655337		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	16276351		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	12405260, 20190800		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	12911730		★☆☆☆☆ Found in Text Mining only
Medulloblastoma	Medulloblastoma	BEFREE	18086126		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23666755, 27210747		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	23666755, 27210747, 32532957, 35055045	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	10497216, 11521202, 12893201, 15277233, 16126264, 21241485, 23666755, 8989239		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	12431761, 1357630, 20348952, 8782654		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	Pubtator	17702766	Associate	★☆☆☆☆ Found in Text Mining only
Neuroendocrine Tumors	Neuroendocrine Tumors	BEFREE	8989239		★☆☆☆☆ Found in Text Mining only
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	BEFREE	8941380		★☆☆☆☆ Found in Text Mining only
Nonarteritic anterior ischemic optic neuropathy (NAION)	Nonarteritic Anterior Ischemic Optic Neuropathy	BEFREE	28431433, 31060051		★☆☆☆☆ Found in Text Mining only
Ocular Hypertension	Ocular Hypertension	BEFREE	28491019, 28549843, 30633922		★☆☆☆☆ Found in Text Mining only
Osteogenesis imperfecta type 3	Osteogenesis imperfecta	Pubtator	12911730	Stimulate	★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	BEFREE	10497216, 9541499		★☆☆☆☆ Found in Text Mining only
Papilloma	Papilloma	LHGDN	16247485		★☆☆☆☆ Found in Text Mining only
Pheochromocytoma	Pheochromocytoma	BEFREE	20483910		★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	16276351		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	16276351		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	32102520	Associate	★☆☆☆☆ Found in Text Mining only
Rhabdomyosarcoma	Rhabdomyosarcoma	BEFREE	20348952		★☆☆☆☆ Found in Text Mining only
Sarcoma	Sarcoma	BEFREE	1357630		★☆☆☆☆ Found in Text Mining only
Thyroid Neoplasms	Thyroid cancer	Pubtator	34319022	Associate	★☆☆☆☆ Found in Text Mining only
Tremor	Tremor	Pubtator	33783914	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	10497216, 9541499	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Dysplasia	Uterine disease	Pubtator	12911730	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasm	Uterine cervix neoplasm	CTD_human_DG	21928122		★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	12911730, 21928122	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	9541499	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Vascular Diseases	Vascular disease	Pubtator	35193936	Associate	★☆☆☆☆ Found in Text Mining only