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POU domain, class 5, transcription factor 1

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GeneName pou5f1
Aliases ENSDARG:ENSDARG00000044774; oct4, cb197, pou2, wu:fd18d06, etID49452.21, spiel ohne grenzen, gp9, gp-9, chunp6868, spiel-ohne-grenzen, spg
Description POU domain, class 5, transcription factor 1
GenomicLocation chromosome 21 11887950-11892809 reverse strand
ExternalIDs Entrez:30333; EMBL:D28548; UniGene:258; ZFIN:ZDB-GENE-980526-485;
TranscriptID ENSDART:ENSDART00000065817
mRNA NCBI:NM_131112
GeneDescription It is a homeodomain transcription factor of the POU family. It is known to be inxolved in the self renewal of undifferentiated embryonic stem cells.
GeneFunction Parvin et al. (2008) found that the main regulatory element to which pou5f1 binds reside in the proximal upstream of the DNA sequence from -2.2 to -0.12 kb. They further performed the electrophoretic gel mobility shift assay which revealed that there are four functional octamer sequences that can associate with zebrafish pou5f1. They had also shown that the four octamer sequences operate in a co-operative manner to drive the expression of pou5f1 in the mid/hindbrain.They also identified the retinoic acid –responsive elements in this proximal region, which was required to repress transcription.

Lachnit et al. ( 2008) analyzed in detail the gastrulation defects present in the zebrafish pou5f1 deficient maternal and zygotic spiel ohne grenzen mutant embryos. These defects are manifested by a severe delay in epiboly progression. They found that all three embryonic lineages in mutant embryos behaved abnormally during epiboly. They found that the yolk cell forms an altered array of cortical microtubules and F-actin, the enveloping layer in delayed and the deep layer cells are non-autonomously affected in their mobility.

Reim et al. (2006) had shown that the embryos that are genetically depleted of pou2 function exhibited severe Dorsoventral patterning defects and an arrest in epiboly.

Reim et al. (2004) had reported that pou5f1 is involved in the formation of the endoderm. They had further shown that embryos that are devoid of the pou5f1 function lacked endodermal precursors. They had further shown that pou5f1 acts in early endodermal precursors.

GeneCloning It is contained in the clone named MGC:55202 ( vector : pME18S-FL3)
GeneStructure This gene encodes a single transcript ENSDART00000065817 which consist of 5 exons and is 2,476 bps in length. The protein product (ENSDARP00000065816) consist of 472 residues.
Protein ENSDARP00000065816
ProteinDomainandFamilies has domain InterPro:IPR000327; InterPro:IPR013847; InterPro:IPR001356; InterPro:IPR012287;
Motifs has motif Prosite:PS00027; Prosite:PS00035; Prosite:PS00465; PFAM:PF00046; PFAM:PF00157; PRINTS:PR00028; PRINTS:PR00031; PRINTS:PR01217; UniProt:PO5F1_DANRE;
Expression ArrayExpress:ENSDARG00000044774;
GeneOntology GO:0005634; GO:0045449; GO:0006355; GO:0006350; GO:0006353; GO:0031564; GO:0001706; GO:0007420; GO:0009953; GO:0016331; GO:0007398; GO:0007498; GO:0009653; GO:0009880; GO:0045893; GO:0003677; GO:0003700; GO:0043565;


DisordersAndMutations The pou5f1 gene is disrupted in the zebrafish mutan called speil ohne grenzen.
RelatedPubMedArticles Reim, G,; Mizoguchi, T,; Stainier, D, Y,; Kikuchi, Y,; Brand, M.: The POU domain protein spg (pou2/Oct4) is essential for endoderm formation in cooperation with the HMG domain protein casanova. Dev Cell. 2004 Jan;6(1):91-101. PMID:14723850

Reim, G,; Brand, M.: Maternal control of vertebrate dorsoventral axis formation and epiboly by the POU domain protein Spg/Pou2/Oct4. Development. 2006 Jul;133(14):2757-70. PMID:16775002

Lachnit, M,; Kur, E,; Driever, W.: Alterations of the cytoskeleton in all three embryonic lineages contribute to the epiboly defect of Pou5f1/Oct4 deficient MZspg zebrafish embryos. Dev Biol. 2008 Mar 1;315(1):1-17. PMID:18215655

Parvin, M, S,; Okuyama, N,; Inoue, F,; Islam, M, E,; Kawakami, A,; Takeda, H,; Yamasu, K.: Autoregulatory loop and retinoic acid repression regulate pou2/pou5f1 gene expression in the zebrafish embryonic brain. Dev Dyn. 2008 May;237(5):1373-88. PMID:18407549
NCBI Resource Coordinators.: Database resources of the National Center for Biotechnology Information. Nucleic Acids Res. 41(Database issue):D8-D20. 2013. PMID:23193264
Kersey, P. J.; Allen, J. E.; Christensen, M.; et al.: Ensembl Genomes 2013: scaling up access to genome-wide data. Nucleic Acids Res. 2013. PMID:24163254
Sigrist, C. J. A.; de, Castro, E; Cerutti, L; Cuche, B. A.; Hulo, N.; Bridge, A.; Bougueleret, L. Xenarios, I.: New and continuing developments at PROSITE. Nucleic Acids Res. doi: 10.1093/nar/gks1067. 2012. PMID:23161676
Punta, M.; Coggill, P. C.; Eberhardt, et al.: The Pfam protein families database. Nucleic Acids Res. 40(Database Issue):D290-D301. 2012. PMID:22127870
Hunter, S.; Jones P.; Mitchell A.; et al.: Interpro in 2011: new developments in the family and domain prediction database. Nucleic Acids Res. doi: 10.1093/nar/gkr948. 2011. PMID:22096229
Carbon, S.; Ireland, A.; Mungall, C. J.; Shu, S.; Marshall, B.; Lewis, S.; AMIGO Hub; Web Presence Working Group.: AMIGO: online access to ontology and annotation data. Bioinformatics. 25(2):288-9. 2009. PMID:19033274
Ashburner, M.; Ball, C. A.; Blake, J. A.; et al. The Gene Ontology Consortium.: Gene ontology: tool for the unification of biology. Nat. Genet. 25(1):25-9. 2000. PMID:10802651
Sherry, S. T.; Ward, M. H.; Kholodov, M.; Baker, J.; Phan, L.; Smigielski, E. M.; Sirotkin, K.: dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 1;29(1):308-11. 2001. PMID:11125122
Bradford, Y.; Conlin, T.; Dunn, N.; et al.: ZFIN: enhancements and updates to the zebrafish model organism database. Nucleic Acids Res. 39(suppl 1):D822-D829. 2011. PMID:21036866
Kapushesky, M.; Adamusiak, T.; Burdett, T.; et al.: Gene Expression Atlas update--a value-added database of microarray and sequencing-based functional genomics experiments. Nucleic Acids Res. 40(Database isue):D1077-81. 2012. PMID:22064864

Web resources:
NCBI: http://www.ncbi.nlm.nih.gov/
PFAM: http://pfam.sanger.ac.uk/
PROSITE: http://prosite.expasy.org/
Interpro: http://www.ebi.ac.uk/interpro/
ZFIN: http://zfin.org/
Expression Atlas (EMBL): http://www.ebi.ac.uk/gxa/
Ensembl: http://asia.ensembl.org/Danio_rerio/
Database of Single Nucleotide Polymorphisms (dbSNP). Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine.: http://www.ncbi.nlm.nih.gov/SNP/
PRINTS from Genomenet: http://www.genome.jp/
European Nucleotide Archive: http://www.ebi.ac.uk/ena/home
UNIGENE: http://www.ncbi.nlm.nih.gov/unigene/
AMIGO Gene Ontology: http://amigo.geneontology.org
Topic revision: r3 - 2009-06-15 - JayantMaini
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