InnateDB: Systems Biology of the Innate Immune Response

Homo sapiens Gene: POU5F1

Summary

InnateDB Gene

IDBG-77210.6

Last Modified

2014-10-13 [Report errors or provide feedback]

Gene Symbol

POU5F1

Gene Name

POU class 5 homeobox 1

Synonyms

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

Species

Homo sapiens

Ensembl Gene

ENSG00000204531

Encoded Proteins

IDBP-77212

POU class 5 homeobox 1

IDBP-370617

POU class 5 homeobox 1

IDBP-806630

POU class 5 homeobox 1

IDBP-478481

POU class 5 homeobox 1

IDBP-482232

POU class 5 homeobox 1

IDBP-806628

POU class 5 homeobox 1

IDBP-806648

POU class 5 homeobox 1

IDBP-806750

POU class 5 homeobox 1

Protein Structure

Useful resources

Stemformatics EHFPI ImmGen

Entrez Gene

Summary

This gene encodes a transcription factor containing a POU homeodomain. This transcription factor plays a role in embryonic development, especially during early embryogenesis, and it is necessary for embryonic stem cell pluripotency. A translocation of this gene with the Ewing's sarcoma gene, t(6;22)(p21;q12), has been linked to tumor formation. Alternative splicing, as well as usage of alternative translation initiation codons, results in multiple isoforms, one of which initiates at a non-AUG (CUG) start codon. Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12. [provided by RefSeq, Mar 2010]
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]

Gene Information

Type

Protein coding

Genomic Location

Chromosome 6:31164337-31180731

Strand

Reverse strand

Band

p21.33

Transcripts

ENST00000259915	ENSP00000259915
ENST00000441888	ENSP00000389359
ENST00000513407	ENSP00000475512
ENST00000512818	ENSP00000425479
ENST00000471529	ENSP00000425083
ENST00000461401
ENST00000606567	ENSP00000475880
ENST00000620031	ENSP00000484778
ENST00000619340	ENSP00000481679

Interactions

Number of Interactions

This gene and/or its encoded proteins are associated with 43 experimentally validated interaction(s) in this database.
They are also associated with 315 interaction(s) predicted by orthology.

Experimentally validated
Total	43 [view]
Protein-Protein	40 [view]
Protein-DNA	3 [view]
Protein-RNA	0
DNA-DNA	0
RNA-RNA	0
DNA-RNA	0

Predicted by orthology
Total	315 [view]

Gene Ontology

Molecular Function

Accession	GO Term
GO:0000981	sequence-specific DNA binding RNA polymerase II transcription factor activity
GO:0003677	DNA binding
GO:0003700	sequence-specific DNA binding transcription factor activity
GO:0005515	protein binding
GO:0008134	transcription factor binding
GO:0031625	ubiquitin protein ligase binding
GO:0035198	miRNA binding
GO:0043565	sequence-specific DNA binding
GO:0044212	transcription regulatory region DNA binding
GO:0044822	poly(A) RNA binding

Biological Process

GO:0001714	endodermal cell fate specification
GO:0001824	blastocyst development
GO:0003130	BMP signaling pathway involved in heart induction
GO:0006355	regulation of transcription, DNA-templated
GO:0006366	transcription from RNA polymerase II promoter
GO:0009611	response to wounding
GO:0009653	anatomical structure morphogenesis
GO:0009786	regulation of asymmetric cell division
GO:0010468	regulation of gene expression
GO:0035019	somatic stem cell maintenance
GO:0035413	positive regulation of catenin import into nucleus
GO:0042789	mRNA transcription from RNA polymerase II promoter
GO:0045944	positive regulation of transcription from RNA polymerase II promoter
GO:0060391	positive regulation of SMAD protein import into nucleus
GO:0060795	cell fate commitment involved in formation of primary germ layer
GO:0060913	cardiac cell fate determination
GO:0060965	negative regulation of gene silencing by miRNA
GO:0090081	regulation of heart induction by regulation of canonical Wnt receptor signaling pathway
GO:0090308	regulation of methylation-dependent chromatin silencing

Cellular Component

GO:0005634	nucleus
GO:0005654	nucleoplasm
GO:0005667	transcription factor complex
GO:0005737	cytoplasm
GO:0005829	cytosol

Orthologs

Species

Mus musculus

Bos taurus

Gene ID

Gene Order

ENSMUSG00000024406

View Gene Order

ENSBTAG00000021111

Not yet available

Pathways

NETPATH

REACTOME

REACT_111045

Developmental Biology pathway

REACT_200812

Transcriptional regulation of pluripotent stem cells pathway

REACT_200759

POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation pathway

REACT_200670

POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation pathway

KEGG

INOH

PID NCI

hif2pathway

HIF-2-alpha transcription factor network

Cross-References

SwissProt

TrEMBL

UniProt Splice Variant

Entrez Gene

UniGene

Hs.249184 Hs.626931 Hs.646545

RefSeq

NM_001173531 NM_001285986 NM_001285987 NM_002701 NM_203289

HUGO

OMIM

CCDS

CCDS34391 CCDS47398 CCDS75420

HPRD

01252

IMGT

EMBL

GenPept

RNA Seq Atlas