Homeobox expressed in ES cells 1

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functionⁱ

Regions

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functionⁱ

• chromatin binding Source: MGI <p>Inferred from Direct Assay</p> <p>Used to indicate a direct assay for the function, process or component indicated by the GO term.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • "Homeodomain-mediated beta-catenin-dependent switching events dictate cell-lineage determination."
    Olson L.E., Tollkuhn J., Scafoglio C., Krones A., Zhang J., Ohgi K.A., Wu W., Taketo M.M., Kemler R., Grosschedl R., Rose D., Li X., Rosenfeld M.G.
    Cell 125:593-605(2006) [PubMed] [Europe PMC] [Abstract]
• DNA binding Source: MGI
• DNA-binding transcription repressor activity, RNA polymerase II-specific Source: NTNU_SBInferred from direct assayⁱ
  • "Homeodomain transcription factor Hesx1/Rpx occupies Prop-1 activation sites in porcine follicle stimulating hormone (FSH) beta subunit promoter."
    Susa T., Nakayama M., Kitahara K., Kimoto F., Kato T., Kato Y.
    Biochem Biophys Res Commun 357:712-717(2007) [PubMed] [Europe PMC] [Abstract]
• protein C-terminus binding Source: MGI <p>Inferred from Physical Interaction</p> <p>Covers physical interactions between the gene product of interest and another molecule (or ion, or complex).</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#ipi">GO evidence code guide</a></p> Inferred from physical interactionⁱ
  • "DNMT1 interacts with the developmental transcriptional repressor HESX1."
    Sajedi E., Gaston-Massuet C., Andoniadou C.L., Signore M., Hurd P.J., Dattani M., Martinez-Barbera J.P.
    Biochim Biophys Acta 1783:131-143(2008) [PubMed] [Europe PMC] [Abstract]
• protein N-terminus binding Source: MGIInferred from physical interactionⁱ
  • "DNMT1 interacts with the developmental transcriptional repressor HESX1."
    Sajedi E., Gaston-Massuet C., Andoniadou C.L., Signore M., Hurd P.J., Dattani M., Martinez-Barbera J.P.
    Biochim Biophys Acta 1783:131-143(2008) [PubMed] [Europe PMC] [Abstract]
• RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: NTNU_SBInferred from direct assayⁱ
  • "Homeodomain transcription factor Hesx1/Rpx occupies Prop-1 activation sites in porcine follicle stimulating hormone (FSH) beta subunit promoter."
    Susa T., Nakayama M., Kitahara K., Kimoto F., Kato T., Kato Y.
    Biochem Biophys Res Commun 357:712-717(2007) [PubMed] [Europe PMC] [Abstract]
• RNA polymerase II transcription regulatory region sequence-specific DNA binding Source: MGIInferred from direct assayⁱ
  • "Homeodomain transcription factor Hesx1/Rpx occupies Prop-1 activation sites in porcine follicle stimulating hormone (FSH) beta subunit promoter."
    Susa T., Nakayama M., Kitahara K., Kimoto F., Kato T., Kato Y.
    Biochem Biophys Res Commun 357:712-717(2007) [PubMed] [Europe PMC] [Abstract]
• sequence-specific double-stranded DNA binding Source: MGI
• transcription factor binding Source: UniProtKB <p>Non-traceable Author Statement</p> <p>Used for statements in the abstract, introduction or discussion of a paper that cannot be traced back to another publication.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#nas">GO evidence code guide</a></p> Non-traceable author statementⁱ
  • "Integrative genomic analyses on HES/HEY family: Notch-independent HES1, HES3 transcription in undifferentiated ES cells, and Notch-dependent HES1, HES5, HEY1, HEY2, HEYL transcription in fetal tissues, adult tissues, or cancer."
    Katoh M., Katoh M.
    Int J Oncol 31:461-466(2007) [PubMed] [Europe PMC] [Abstract]

GO - Biological processⁱ

• brain development Source: MGI <p>Inferred from Mutant Phenotype</p> <p>Describes annotations that are concluded from looking at variations or changes in a gene product such as mutations or abnormal levels and includes techniques such as knockouts, overexpression, anti-sense experiments and use of specific protein inhibitors.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • "Getting your head around Hex and Hesx1: forebrain formation in mouse."
    Martinez-Barbera J.P., Beddington R.S.
    Int J Dev Biol 45:327-336(2001) [PubMed] [Europe PMC] [Abstract]
• camera-type eye development Source: MGIInferred from mutant phenotypeⁱ
  • "Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism."
    Sajedi E., Gaston-Massuet C., Signore M., Andoniadou C.L., Kelberman D., Castro S., Etchevers H.C., Gerrelli D., Dattani M.T., Martinez-Barbera J.P.
    Dis Model Mech 1:241-254(2008) [PubMed] [Europe PMC] [Abstract]
• canonical Wnt signaling pathway Source: MGIInferred from mutant phenotypeⁱ
  • "Lack of the murine homeobox gene Hesx1 leads to a posterior transformation of the anterior forebrain."
    Andoniadou C.L., Signore M., Sajedi E., Gaston-Massuet C., Kelberman D., Burns A.J., Itasaki N., Dattani M., Martinez-Barbera J.P.
    Development 134:1499-1508(2007) [PubMed] [Europe PMC] [Abstract]
• ERK1 and ERK2 cascade Source: MGIInferred from mutant phenotypeⁱ
  • "Genetic Deletion of Hesx1 Promotes Exit from the Pluripotent State and Impairs Developmental Diapause."
    Pozzi S., Bowling S., Apps J., Brickman J.M., Rodriguez T.A., Martinez-Barbera J.P.
    Stem Cell Reports 13:970-979(2019) [PubMed] [Europe PMC] [Abstract]
• forebrain development Source: MGIInferred from direct assayⁱ
  • "Dkk1-dependent inhibition of Wnt signaling activates Hesx1 expression through its 5' enhancer and directs forebrain precursor development."
    Matsuda K., Kondoh H.
    Genes Cells 19:374-385(2014) [PubMed] [Europe PMC] [Abstract]
• forebrain morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • "The homeobox gene Hesx1 is required in the anterior neural ectoderm for normal forebrain formation."
    Martinez-Barbera J.P., Rodriguez T.A., Beddington R.S.
    Dev Biol 223:422-430(2000) [PubMed] [Europe PMC] [Abstract]
  • Ref.7

    "Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse."
    Dattani M.T., Martinez-Barbera J.-P., Thomas P.Q., Brickman J.M., Gupta R., Maartensson I.-L., Toresson H., Fox M., Wales J.K.H., Hindmarsh P.C., Krauss S., Beddington R.S.P., Robinson I.C.A.F.
    Nat. Genet. 19:125-133(1998) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION.
• gene expression Source: MGIInferred from direct assayⁱ
  • "Homeodomain transcription factor Hesx1/Rpx occupies Prop-1 activation sites in porcine follicle stimulating hormone (FSH) beta subunit promoter."
    Susa T., Nakayama M., Kitahara K., Kimoto F., Kato T., Kato Y.
    Biochem Biophys Res Commun 357:712-717(2007) [PubMed] [Europe PMC] [Abstract]
• gonad development Source: MGI <p>Inferred from Genetic Interaction</p> <p>Used to describe "traditional" genetic interactions such as suppressors and synthetic lethals as well as other techniques such as functional complementation, rescue experiments, or inferences about a gene drawn from the phenotype of a mutation in a different gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#igi">GO evidence code guide</a></p> Inferred from genetic interactionⁱ
  • "Genetic interaction between the homeobox transcription factors HESX1 and SIX3 is required for normal pituitary development."
    Gaston-Massuet C., Andoniadou C.L., Signore M., Sajedi E., Bird S., Turner J.M., Martinez-Barbera J.P.
    Dev. Biol. 324:322-333(2008) [PubMed] [Europe PMC] [Abstract]
• leukemia inhibitory factor signaling pathway Source: MGIInferred from mutant phenotypeⁱ
  • "Genetic Deletion of Hesx1 Promotes Exit from the Pluripotent State and Impairs Developmental Diapause."
    Pozzi S., Bowling S., Apps J., Brickman J.M., Rodriguez T.A., Martinez-Barbera J.P.
    Stem Cell Reports 13:970-979(2019) [PubMed] [Europe PMC] [Abstract]
• multicellular organism growth Source: MGIInferred from genetic interactionⁱ
  • "Genetic interaction between the homeobox transcription factors HESX1 and SIX3 is required for normal pituitary development."
    Gaston-Massuet C., Andoniadou C.L., Signore M., Sajedi E., Bird S., Turner J.M., Martinez-Barbera J.P.
    Dev. Biol. 324:322-333(2008) [PubMed] [Europe PMC] [Abstract]
• negative regulation of transcription, DNA-templated Source: MGIInferred from direct assayⁱ
  • "DNMT1 interacts with the developmental transcriptional repressor HESX1."
    Sajedi E., Gaston-Massuet C., Andoniadou C.L., Signore M., Hurd P.J., Dattani M., Martinez-Barbera J.P.
    Biochim Biophys Acta 1783:131-143(2008) [PubMed] [Europe PMC] [Abstract]
• negative regulation of transcription by RNA polymerase II Source: NTNU_SBInferred from direct assayⁱ
  • "Homeodomain transcription factor Hesx1/Rpx occupies Prop-1 activation sites in porcine follicle stimulating hormone (FSH) beta subunit promoter."
    Susa T., Nakayama M., Kitahara K., Kimoto F., Kato T., Kato Y.
    Biochem Biophys Res Commun 357:712-717(2007) [PubMed] [Europe PMC] [Abstract]
• nose development Source: MGIInferred from mutant phenotypeⁱ
  • Ref.7

    "Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse."
    Dattani M.T., Martinez-Barbera J.-P., Thomas P.Q., Brickman J.M., Gupta R., Maartensson I.-L., Toresson H., Fox M., Wales J.K.H., Hindmarsh P.C., Krauss S., Beddington R.S.P., Robinson I.C.A.F.
    Nat. Genet. 19:125-133(1998) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION.
• otic vesicle formation Source: MGIInferred from mutant phenotypeⁱ
  • Ref.7

    "Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse."
    Dattani M.T., Martinez-Barbera J.-P., Thomas P.Q., Brickman J.M., Gupta R., Maartensson I.-L., Toresson H., Fox M., Wales J.K.H., Hindmarsh P.C., Krauss S., Beddington R.S.P., Robinson I.C.A.F.
    Nat. Genet. 19:125-133(1998) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION.
• pituitary gland development Source: MGIInferred from mutant phenotypeⁱ
  • "Temporal regulation of a paired-like homeodomain repressor/TLE corepressor complex and a related activator is required for pituitary organogenesis."
    Dasen J.S., Martinez-Barbera J.-P., Herman T.S., O'Connell S., Olson L., Ju B., Tollkuhn J., Baek S.H., Rose D.W., Rosenfeld M.G.
    Genes Dev. 15:3193-3207(2001) [PubMed] [Europe PMC] [Abstract]
  • "Analysis of mouse models carrying the I26T and R160C substitutions in the transcriptional repressor HESX1 as models for septo-optic dysplasia and hypopituitarism."
    Sajedi E., Gaston-Massuet C., Signore M., Andoniadou C.L., Kelberman D., Castro S., Etchevers H.C., Gerrelli D., Dattani M.T., Martinez-Barbera J.P.
    Dis Model Mech 1:241-254(2008) [PubMed] [Europe PMC] [Abstract]
  • "Corepressors TLE1 and TLE3 interact with HESX1 and PROP1."
    Carvalho L.R., Brinkmeier M.L., Castinetti F., Ellsworth B.S., Camper S.A.
    Mol Endocrinol 24:754-765(2010) [PubMed] [Europe PMC] [Abstract]
  • Ref.7

    "Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse."
    Dattani M.T., Martinez-Barbera J.-P., Thomas P.Q., Brickman J.M., Gupta R., Maartensson I.-L., Toresson H., Fox M., Wales J.K.H., Hindmarsh P.C., Krauss S., Beddington R.S.P., Robinson I.C.A.F.
    Nat. Genet. 19:125-133(1998) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION.
• regulation of embryonic development Source: MGIInferred from mutant phenotypeⁱ
  • "Genetic Deletion of Hesx1 Promotes Exit from the Pluripotent State and Impairs Developmental Diapause."
    Pozzi S., Bowling S., Apps J., Brickman J.M., Rodriguez T.A., Martinez-Barbera J.P.
    Stem Cell Reports 13:970-979(2019) [PubMed] [Europe PMC] [Abstract]
• stem cell differentiation Source: MGIInferred from mutant phenotypeⁱ
  • "Genetic Deletion of Hesx1 Promotes Exit from the Pluripotent State and Impairs Developmental Diapause."
    Pozzi S., Bowling S., Apps J., Brickman J.M., Rodriguez T.A., Martinez-Barbera J.P.
    Stem Cell Reports 13:970-979(2019) [PubMed] [Europe PMC] [Abstract]
• thyroid gland development Source: MGIInferred from genetic interactionⁱ
  • "Genetic interaction between the homeobox transcription factors HESX1 and SIX3 is required for normal pituitary development."
    Gaston-Massuet C., Andoniadou C.L., Signore M., Sajedi E., Bird S., Turner J.M., Martinez-Barbera J.P.
    Dev. Biol. 324:322-333(2008) [PubMed] [Europe PMC] [Abstract]
• Wnt signaling pathway Source: MGIInferred from direct assayⁱ
  • "Dkk1-dependent inhibition of Wnt signaling activates Hesx1 expression through its 5' enhancer and directs forebrain precursor development."
    Matsuda K., Kondoh H.
    Genes Cells 19:374-385(2014) [PubMed] [Europe PMC] [Abstract]

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsⁱ

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyⁱ

Organism-specific databases

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationⁱ

Keywords - Cellular componentⁱ

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingⁱ

Molecule processing

Proteomic databases

PTM databases

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressionⁱ

<p>This subsection of the 'Expression' section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified 'at protein level'.<br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityⁱ

<p>This subsection of the 'Expression' section provides information on the expression of the gene product at various stages of a cell, tissue or organism development. By default, the information is derived from experiments at the mRNA level, unless specified 'at the protein level'.<p><a href='/help/developmental_stage' target='_top'>More...</a></p>Developmental stageⁱ

<p>This subsection of the 'Expression' section reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductionⁱ

Gene expression databases

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactionⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction%5Fsection">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function%5Fsection">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structureⁱ

GO - Molecular functionⁱ

• protein C-terminus binding Source: MGIInferred from physical interactionⁱ
  • "DNMT1 interacts with the developmental transcriptional repressor HESX1."
    Sajedi E., Gaston-Massuet C., Andoniadou C.L., Signore M., Hurd P.J., Dattani M., Martinez-Barbera J.P.
    Biochim Biophys Acta 1783:131-143(2008) [PubMed] [Europe PMC] [Abstract]
• protein N-terminus binding Source: MGIInferred from physical interactionⁱ
  • "DNMT1 interacts with the developmental transcriptional repressor HESX1."
    Sajedi E., Gaston-Massuet C., Andoniadou C.L., Signore M., Hurd P.J., Dattani M., Martinez-Barbera J.P.
    Biochim Biophys Acta 1783:131-143(2008) [PubMed] [Europe PMC] [Abstract]
• transcription factor binding Source: UniProtKBNon-traceable author statementⁱ
  • "Integrative genomic analyses on HES/HEY family: Notch-independent HES1, HES3 transcription in undifferentiated ES cells, and Notch-dependent HES1, HES5, HEY1, HEY2, HEYL transcription in fetal tissues, adult tissues, or cancer."
    Katoh M., Katoh M.
    Int J Oncol 31:461-466(2007) [PubMed] [Europe PMC] [Abstract]

Protein-protein interaction databases

Miscellaneous databases

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structureⁱ

3D structure databases

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsⁱ

<p>This subsection of the 'Family and domains' section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesⁱ

Keywords - Domainⁱ

Phylogenomic databases

Family and domain databases

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence%5Flength">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequenceⁱ

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences%5Fsection">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical%5Fand%5Fisoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusⁱ: Complete.

        10         20         30         40         50
MSPSLREGAQ LRESKPAPCS FSIESILGLD QKKDCTTSVR PHRPWTDTCG 
        60         70         80         90        100
DSEKGGNPPL HAPDLPSETS FPCPVDHPRP EERAPKYENY FSASETRSLK 
       110        120        130        140        150
RELSWYRGRR PRTAFTQNQV EVLENVFRVN CYPGIDIRED LAQKLNLEED 
       160        170        180 
RIQIWFQNRR AKMKRSRRES QFLMAKKPFN PDLLK                 

Experimental Info

Sequence databases

Genome annotation databases

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsⁱ

• 90% Identity
• 50% Identity

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesⁱ

Sequence databases

3D structure databases

Protein-protein interaction databases

PTM databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationⁱ

<p>This section contains any relevant information that doesn't fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousⁱ

Keywords - Technical termⁱ

Documents

1. MGD cross-references
   Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot
2. SIMILARITY comments
   Index of protein domains and families