Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene miRNA Transcription factors Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	5457
Gene name Gene Name - the full gene name approved by the HGNC.	POU class 4 homeobox 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	POU4F1
Synonyms (NCBI Gene) Gene synonyms aliases	ATITHS, BRN3A, Oct-T1, RDC-1, brn-3A
Disease Acronyms (UniProt) Disease acronyms from UniProt database	ATITHS
Chromosome Chromosome number	13
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	13q31.1
Summary Summary of gene provided in NCBI Entrez Gene.	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

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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

Show/Hide all(1)

Transcription factor	Regulation	Reference
EWSR1	Unknown	15021903

Show/Hide all(54)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000122	Process	Negative regulation of transcription by RNA polymerase II	ISS
GO:0000785	Component	Chromatin	ISA
GO:0000978	Function	RNA polymerase II cis-regulatory region sequence-specific DNA binding	IBA	21873635
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	21873635
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	ISA
GO:0000981	Function	DNA-binding transcription factor activity, RNA polymerase II-specific	ISS
GO:0001228	Function	DNA-binding transcription activator activity, RNA polymerase II-specific	ISS
GO:0001967	Process	Suckling behavior	IEA
GO:0003223	Process	Ventricular compact myocardium morphogenesis	IEA
GO:0003682	Function	Chromatin binding	IEA
GO:0003697	Function	Single-stranded DNA binding	ISS
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005634	Component	Nucleus	ISS
GO:0005654	Component	Nucleoplasm	TAS
GO:0005737	Component	Cytoplasm	ISS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0007409	Process	Axonogenesis	TAS	17239249
GO:0007416	Process	Synapse assembly	TAS	8995448
GO:0007498	Process	Mesoderm development	IEA
GO:0007507	Process	Heart development	ISS
GO:0010628	Process	Positive regulation of gene expression	ISS
GO:0010629	Process	Negative regulation of gene expression	ISS
GO:0021535	Process	Cell migration in hindbrain	IEA
GO:0021559	Process	Trigeminal nerve development	ISS
GO:0021953	Process	Central nervous system neuron differentiation	IEA
GO:0021986	Process	Habenula development	IEA
GO:0031175	Process	Neuron projection development	ISS
GO:0043005	Component	Neuron projection	IEA
GO:0043065	Process	Positive regulation of apoptotic process	IEA
GO:0043069	Process	Negative regulation of programmed cell death	ISS
GO:0043524	Process	Negative regulation of neuron apoptotic process	ISS
GO:0043524	Process	Negative regulation of neuron apoptotic process	TAS	17239249
GO:0043565	Function	Sequence-specific DNA binding	ISS
GO:0045672	Process	Positive regulation of osteoclast differentiation	ISS
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	ISS
GO:0048665	Process	Neuron fate specification	ISS
GO:0048880	Process	Sensory system development	ISS
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:0060384	Process	Innervation	TAS	17239249
GO:0071158	Process	Positive regulation of cell cycle arrest	ISS
GO:0071345	Process	Cellular response to cytokine stimulus	ISS
GO:0071392	Process	Cellular response to estradiol stimulus	ISS
GO:0072332	Process	Intrinsic apoptotic signaling pathway by p53 class mediator	ISS
GO:0090575	Component	RNA polymerase II transcription regulator complex	IEA
GO:1901796	Process	Regulation of signal transduction by p53 class mediator	TAS
GO:1990837	Function	Sequence-specific double-stranded DNA binding	IDA	28473536
GO:2000679	Process	Positive regulation of transcription regulatory region DNA binding	ISS
GO:2001208	Process	Negative regulation of transcription elongation by RNA polymerase I	IEA

MIM	HGNC	e!Ensembl
601632	9218	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

Interactions

View interactions

	Reactome
			Regulation of TP53 Activity through Association with Co-factors

Show/Hide Causal Diseases (2)

Disease term	Disease name	dbSNP ID	References
Causal
Cervical cancer	cervical cancer	rs28934571, rs121913482, rs121913483	21928122
Leukemia	Leukemia, Myelocytic, Acute, Acute Myeloid Leukemia (AML-M2)	rs121909646, rs121913488, rs587776834, rs752746786, rs869312821, rs767454740, rs1554564297	18206229

Show/Hide Text Mining Associations (25)

Disease Name	Relationship Type	References
Associations from Text Mining
Aortic Aneurysm Abdominal	Associate	35193936
Ataxia	Associate	33783914
Cell Transformation Neoplastic	Stimulate	21928122
Cerebellar Diseases	Associate	33783914
Colorectal Neoplasms	Associate	32351322, 33203797
Infarction Anterior Cerebral Artery	Associate	35193936
Lupus Erythematosus Systemic	Stimulate	15818685
Melanoma	Associate	23666755, 27210747, 32532957, 35055045
Muscle Hypotonia	Associate	33783914
Neoplasms	Stimulate	23666755
Neoplasms	Associate	30364933
Nerve Degeneration	Associate	21374761, 33783914
Neuroblastoma	Associate	17702766
Osteogenesis imperfecta type 3	Stimulate	12911730
Papillomavirus Infections	Associate	30364933
Pressure Ulcer	Associate	35193936
Prostatic Neoplasms	Associate	32102520
Retinal Dysplasia	Associate	30364933
Thyroid Neoplasms	Associate	34319022
Tremor	Associate	33783914
Uterine Cervical Dysplasia	Stimulate	10497216, 9541499
Uterine Cervical Dysplasia	Associate	12911730
Uterine Cervical Neoplasms	Associate	12911730, 21928122
Uterine Cervical Neoplasms	Stimulate	9541499
Vascular Diseases	Associate	35193936

POU4F1 (POU class 4 homeobox 1)