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Search Result

Gene id

5460

Gene Summary Protein Summary Gene ontology KEGG pathways Diseases PubMed references

Gene Summary

Gene Symbol

POU5F1 Gene UCSC Ensembl

Aliases

OCT3, OCT4, OTF-3, OTF3, OTF4, Oct-3, Oct-4

Gene name

POU class 5 homeobox 1

Alternate names

POU domain, class 5, transcription factor 1, POU class 5 homeobox 1 transcript variant OCT4B1, POU class 5 homeobox 1 transcript variant OCT4B2, POU class 5 homeobox 1 transcript variant OCT4B3, POU class 5 homeobox 1 transcript variant OCT4B4, POU class 5 hom,

Gene location

6p21.33 (31170692: 31164336) Exons: 6 NC_000006.12

Gene summary(Entrez)

This gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is associated with tumorigenesis. This gene can participate in a translocation with the Ewing's sarcoma gene on chromosome 21, which also leads to tumor formation. Alternative splicing, as well as usage of alternative AUG and non-AUG translation initiation codons, results in multiple isoforms. One of the AUG start codons is polymorphic in human populations. Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12. [provided by RefSeq, Oct 2013]

OMIM

164177

Protein Summary

Protein general information

Q01860

Name: POU domain, class 5, transcription factor 1 (Octamer binding protein 3) (Oct 3) (Octamer binding protein 4) (Oct 4) (Octamer binding transcription factor 3) (OTF 3)

Length: 360 Mass: 38,571

Tissue specificity: Expressed in developing brain. Highest levels found in specific cell layers of the cortex, the olfactory bulb, the hippocampus and the cerebellum. Low levels of expression in adult tissues. {ECO

Sequence

MAGHLASDFAFSPPPGGGGDGPGGPEPGWVDPRTWLSFQGPPGGPGIGPGVGPGSEVWGIPPCPPPYEFCGGMAY
CGPQVGVGLVPQGGLETSQPEGEAGVGVESNSDGASPEPCTVTPGAVKLEKEKLEQNPEESQDIKALQKELEQFA
KLLKQKRITLGYTQADVGLTLGVLFGKVFSQTTICRFEALQLSFKNMCKLRPLLQKWVEEADNNENLQEICKAET
LVQARKRKRTSIENRVRGNLENLFLQCPKPTLQQISHIAQQLGLEKDVVRVWFCNRRQKGKRSSSDYAQREDFEA
AGSPFSGGPVSFPLAPGPHFGTPGYGSPHFTALYSSVPFPEGEAFPPVSVTTLGSPMHSN

Structural information

Protein Domains	POU-specific. (138-212)
Interpro:	IPR009057 IPR017970 IPR001356 IPR010982 IPR013847 IPR000327 IPR015585
Prosite:	PS00027 PS50071 PS00035 PS00465 PS51179
Pfam:	PF00046 PF00157
DIP:	33440
MINT:	87567
STRING:	ENSP00000259915;

Other Databases

GeneCards: POU5F1; Malacards: POU5F1

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular_function
GO:0000981	RNA polymerase II transcr iption factor activity, s equence-specific DNA bind ing	ISS	molecular_function
GO:0001227	transcriptional repressor activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IDA	molecular_function
GO:0001714	endodermal cell fate spec ification	IDA	biological_process
GO:0001824	blastocyst development	ISS	biological_process
GO:0003130	BMP signaling pathway inv olved in heart induction	IMP	biological_process
GO:0003677	DNA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IC	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005667	transcription factor comp lex	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	IDA	cellular_component
GO:0006355	regulation of transcripti on, DNA-templated	IDA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	ISS	biological_process
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0009611	response to wounding	IEP	biological_process
GO:0009653	anatomical structure morp hogenesis	TAS	biological_process
GO:0009786	regulation of asymmetric cell division	ISS	biological_process
GO:0010468	regulation of gene expres sion	IMP	biological_process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular_function
GO:0035019	somatic stem cell populat ion maintenance	IMP	biological_process
GO:0035019	somatic stem cell populat ion maintenance	IDA	biological_process
GO:0035019	somatic stem cell populat ion maintenance	IMP	biological_process
GO:0035019	somatic stem cell populat ion maintenance	TAS	biological_process
GO:0035198	miRNA binding	IDA	molecular_function
GO:0035198	miRNA binding	IDA	molecular_function
GO:0035413	positive regulation of ca tenin import into nucleus	IDA	biological_process
GO:0042789	mRNA transcription from R NA polymerase II promoter	ISS	biological_process
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044822	poly(A) RNA binding	IDA	molecular_function
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0060391	positive regulation of SM AD protein import into nu cleus	IDA	biological_process
GO:0060795	cell fate commitment invo lved in formation of prim ary germ layer	IMP	biological_process
GO:0060913	cardiac cell fate determi nation	IDA	biological_process
GO:0060965	negative regulation of ge ne silencing by miRNA	IMP	biological_process
GO:0090081	regulation of heart induc tion by regulation of can onical Wnt signaling path way	IMP	biological_process
GO:0090308	regulation of methylation -dependent chromatin sile ncing	IDA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular_function
GO:0000981	RNA polymerase II transcr iption factor activity, s equence-specific DNA bind ing	ISS	molecular_function
GO:0001227	transcriptional repressor activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IDA	molecular_function
GO:0001714	endodermal cell fate spec ification	IDA	biological_process
GO:0001824	blastocyst development	ISS	biological_process
GO:0003130	BMP signaling pathway inv olved in heart induction	IMP	biological_process
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IEA	molecular_function
GO:0003677	DNA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IEA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IEA	cellular_component
GO:0005634	nucleus	IC	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005667	transcription factor comp lex	IDA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IEA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	IDA	cellular_component
GO:0006351	transcription, DNA-templa ted	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IEA	biological_process
GO:0006355	regulation of transcripti on, DNA-templated	IDA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	ISS	biological_process
GO:0007275	multicellular organism de velopment	IEA	biological_process
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0009611	response to wounding	IEP	biological_process
GO:0009653	anatomical structure morp hogenesis	TAS	biological_process
GO:0009786	regulation of asymmetric cell division	ISS	biological_process
GO:0010468	regulation of gene expres sion	IMP	biological_process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular_function
GO:0035019	somatic stem cell populat ion maintenance	IMP	biological_process
GO:0035019	somatic stem cell populat ion maintenance	IDA	biological_process
GO:0035019	somatic stem cell populat ion maintenance	IMP	biological_process
GO:0035019	somatic stem cell populat ion maintenance	TAS	biological_process
GO:0035198	miRNA binding	IDA	molecular_function
GO:0035198	miRNA binding	IDA	molecular_function
GO:0035413	positive regulation of ca tenin import into nucleus	IDA	biological_process
GO:0042789	mRNA transcription from R NA polymerase II promoter	ISS	biological_process
GO:0043565	sequence-specific DNA bin ding	IEA	molecular_function
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044822	poly(A) RNA binding	IDA	molecular_function
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0060391	positive regulation of SM AD protein import into nu cleus	IDA	biological_process
GO:0060795	cell fate commitment invo lved in formation of prim ary germ layer	IMP	biological_process
GO:0060913	cardiac cell fate determi nation	IDA	biological_process
GO:0060965	negative regulation of ge ne silencing by miRNA	IMP	biological_process
GO:0090081	regulation of heart induc tion by regulation of can onical Wnt signaling path way	IMP	biological_process
GO:0090308	regulation of methylation -dependent chromatin sile ncing	IDA	biological_process
GO:0000122	negative regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0000976	transcription regulatory region sequence-specific DNA binding	IDA	molecular_function
GO:0000981	RNA polymerase II transcr iption factor activity, s equence-specific DNA bind ing	ISS	molecular_function
GO:0001227	transcriptional repressor activity, RNA polymerase II transcription regulat ory region sequence-speci fic binding	IDA	molecular_function
GO:0001714	endodermal cell fate spec ification	IDA	biological_process
GO:0001824	blastocyst development	ISS	biological_process
GO:0003130	BMP signaling pathway inv olved in heart induction	IMP	biological_process
GO:0003677	DNA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	IDA	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0003700	transcription factor acti vity, sequence-specific D NA binding	TAS	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005515	protein binding	IPI	molecular_function
GO:0005634	nucleus	IC	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005634	nucleus	IDA	cellular_component
GO:0005654	nucleoplasm	IDA	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005654	nucleoplasm	TAS	cellular_component
GO:0005667	transcription factor comp lex	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005737	cytoplasm	IDA	cellular_component
GO:0005829	cytosol	IDA	cellular_component
GO:0006355	regulation of transcripti on, DNA-templated	IDA	biological_process
GO:0006366	transcription from RNA po lymerase II promoter	ISS	biological_process
GO:0008134	transcription factor bind ing	IPI	molecular_function
GO:0009611	response to wounding	IEP	biological_process
GO:0009653	anatomical structure morp hogenesis	TAS	biological_process
GO:0009786	regulation of asymmetric cell division	ISS	biological_process
GO:0010468	regulation of gene expres sion	IMP	biological_process
GO:0031625	ubiquitin protein ligase binding	IPI	molecular_function
GO:0035019	somatic stem cell populat ion maintenance	IMP	biological_process
GO:0035019	somatic stem cell populat ion maintenance	IDA	biological_process
GO:0035019	somatic stem cell populat ion maintenance	IMP	biological_process
GO:0035019	somatic stem cell populat ion maintenance	TAS	biological_process
GO:0035198	miRNA binding	IDA	molecular_function
GO:0035198	miRNA binding	IDA	molecular_function
GO:0035413	positive regulation of ca tenin import into nucleus	IDA	biological_process
GO:0042789	mRNA transcription from R NA polymerase II promoter	ISS	biological_process
GO:0043565	sequence-specific DNA bin ding	IDA	molecular_function
GO:0044212	transcription regulatory region DNA binding	IDA	molecular_function
GO:0044822	poly(A) RNA binding	IDA	molecular_function
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0045944	positive regulation of tr anscription from RNA poly merase II promoter	IDA	biological_process
GO:0060391	positive regulation of SM AD protein import into nu cleus	IDA	biological_process
GO:0060795	cell fate commitment invo lved in formation of prim ary germ layer	IMP	biological_process
GO:0060913	cardiac cell fate determi nation	IDA	biological_process
GO:0060965	negative regulation of ge ne silencing by miRNA	IMP	biological_process
GO:0090081	regulation of heart induc tion by regulation of can onical Wnt signaling path way	IMP	biological_process
GO:0090308	regulation of methylation -dependent chromatin sile ncing	IDA	biological_process

KEGG pathways

hsa04550 Signaling pathways regulating pluripotency of stem cells

Diseases

Associated diseases	References
Behcet's disease	PMID: 20622878
Endometriosis	PMID: 21075367
Multiple sclerosis	PMID: 17660530
Endometriosis	INFBASE21075367
Premature ovarian failure ( POF)	PMID: 21273125
Psoriasis	PMID: 12653732
Stevens-Johnson syndrome	PMID: 21801394
Systemic lupus erythematosus	PMID: 19851445

PubMed references

PMID	Condition	Population details	Infertility_type	Associated_genes	Abstract
23670619	Endometrio sis	18 ( 9 eutopic endometrial cel ls collected fr om females with endometriosis, 9 eutopic endo metrial cells c ollected from f emales without endometriosis)	Female infertility	CXCR4 SOX2 MET CRMP2 Oct4	Show abstract
23290742	Endometrio sis	106 (9 with nor mal endometrium , 36 patients with hyperplast ic endometrium, 58 patients wi th endometriosi s)		OCT4 NANOG VIMENTIN TWIST and SLUG	Show abstract
21075367	Endometrio sis			oct-4 c-kit	Show abstract
26675296	Endometrio sis	55 (47 patient tissues (23 wit h adenomyotic m yometrium, 24 w ith chocolate c yst))		POU5F1	Show abstract
27881125	Endometrio sis	209 (69 endomet riosis patient, 90 endometriot ic tissue, 50 c ontrol endometr ium )		OCT4 SOX15 TWIST1 DCAMLK1	Show abstract