Hairy and enhancer of split-related protein HELT

<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

<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

• DNA 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
  • Ref.1

    "Helt, a novel basic-helix-loop-helix transcriptional repressor expressed in the developing central nervous system."
    Nakatani T., Mizuhara E., Minaki Y., Sakamoto Y., Ono Y.
    J. Biol. Chem. 279:16356-16367(2004) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SELF-ASSOCIATION, INTERACTION WITH HES5 AND HEY2, SUBCELLULAR LOCATION, DNA-BINDING.
• DNA-binding transcription factor activity Source: MGIInferred from direct assayⁱ
  • Ref.1

    "Helt, a novel basic-helix-loop-helix transcriptional repressor expressed in the developing central nervous system."
    Nakatani T., Mizuhara E., Minaki Y., Sakamoto Y., Ono Y.
    J. Biol. Chem. 279:16356-16367(2004) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SELF-ASSOCIATION, INTERACTION WITH HES5 AND HEY2, SUBCELLULAR LOCATION, DNA-BINDING.
• DNA-binding transcription repressor activity, RNA polymerase II-specific Source: NTNU_SBInferred from direct assayⁱ
  • Ref.1

    "Helt, a novel basic-helix-loop-helix transcriptional repressor expressed in the developing central nervous system."
    Nakatani T., Mizuhara E., Minaki Y., Sakamoto Y., Ono Y.
    J. Biol. Chem. 279:16356-16367(2004) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SELF-ASSOCIATION, INTERACTION WITH HES5 AND HEY2, SUBCELLULAR LOCATION, DNA-BINDING.
• protein dimerization activity Source: InterPro
• RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: NTNU_SBInferred from direct assayⁱ
  • Ref.1

    "Helt, a novel basic-helix-loop-helix transcriptional repressor expressed in the developing central nervous system."
    Nakatani T., Mizuhara E., Minaki Y., Sakamoto Y., Ono Y.
    J. Biol. Chem. 279:16356-16367(2004) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SELF-ASSOCIATION, INTERACTION WITH HES5 AND HEY2, SUBCELLULAR LOCATION, DNA-BINDING.
• RNA polymerase II regulatory region sequence-specific DNA binding Source: GO_Central <p>Inferred from Biological aspect of Ancestor</p> <p>A type of phylogenetic evidence whereby an aspect of a descendent is inferred through the characterization of an aspect of a ancestral gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide%2Dgo%2Devidence%2Dcodes#iba">GO evidence code guide</a></p> Inferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]

GO - Biological processⁱ

• anterior/posterior pattern specification Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• cell differentiation Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• central nervous system 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
  • Ref.5

    "Megane/Heslike is required for normal GABAergic differentiation in the mouse superior colliculus."
    Guimera J., Weisenhorn D.V., Wurst W.
    Development 133:3847-3857(2006) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, DEVELOPMENTAL STAGE, DISRUPTION PHENOTYPE.
• GABAergic neuron differentiation in basal ganglia Source: MGIInferred from mutant phenotypeⁱ
  • Ref.5

    "Megane/Heslike is required for normal GABAergic differentiation in the mouse superior colliculus."
    Guimera J., Weisenhorn D.V., Wurst W.
    Development 133:3847-3857(2006) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, DEVELOPMENTAL STAGE, DISRUPTION PHENOTYPE.
• gene expression Source: MGIInferred from mutant phenotypeⁱ
  • Ref.5

    "Megane/Heslike is required for normal GABAergic differentiation in the mouse superior colliculus."
    Guimera J., Weisenhorn D.V., Wurst W.
    Development 133:3847-3857(2006) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, DEVELOPMENTAL STAGE, DISRUPTION PHENOTYPE.
• multicellular organism aging Source: MGIInferred from mutant phenotypeⁱ
  • Ref.5

    "Megane/Heslike is required for normal GABAergic differentiation in the mouse superior colliculus."
    Guimera J., Weisenhorn D.V., Wurst W.
    Development 133:3847-3857(2006) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, DEVELOPMENTAL STAGE, DISRUPTION PHENOTYPE.
• multicellular organism growth Source: MGIInferred from mutant phenotypeⁱ
  • Ref.5

    "Megane/Heslike is required for normal GABAergic differentiation in the mouse superior colliculus."
    Guimera J., Weisenhorn D.V., Wurst W.
    Development 133:3847-3857(2006) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, DEVELOPMENTAL STAGE, DISRUPTION PHENOTYPE.
• negative regulation of transcription by RNA polymerase II Source: MGIInferred from direct assayⁱ
  • Ref.1

    "Helt, a novel basic-helix-loop-helix transcriptional repressor expressed in the developing central nervous system."
    Nakatani T., Mizuhara E., Minaki Y., Sakamoto Y., Ono Y.
    J. Biol. Chem. 279:16356-16367(2004) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, SELF-ASSOCIATION, INTERACTION WITH HES5 AND HEY2, SUBCELLULAR LOCATION, DNA-BINDING.
• neuron differentiation 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
  • Ref.2

    "Identification of a novel basic helix-loop-helix gene, Heslike, and its role in GABAergic neurogenesis."
    Miyoshi G., Bessho Y., Yamada S., Kageyama R.
    J. Neurosci. 24:3672-3682(2004) [PubMed] [Europe PMC] [Abstract]

    Cited for: NUCLEOTIDE SEQUENCE [MRNA], FUNCTION, DEVELOPMENTAL STAGE.
• positive regulation of transcription by RNA polymerase II Source: MGIInferred from mutant phenotypeⁱ
  • "Subcortical visual shell nuclei targeted by ipRGCs develop from a Sox14+-GABAergic progenitor and require Sox14 to regulate daily activity rhythms."
    Delogu A., Sellers K., Zagoraiou L., Bocianowska-Zbrog A., Mandal S., Guimera J., Rubenstein J.L., Sugden D., Jessell T., Lumsden A.
    Neuron 75:648-662(2012) [PubMed] [Europe PMC] [Abstract]
• post-embryonic development Source: MGIInferred from mutant phenotypeⁱ
  • Ref.5

    "Megane/Heslike is required for normal GABAergic differentiation in the mouse superior colliculus."
    Guimera J., Weisenhorn D.V., Wurst W.
    Development 133:3847-3857(2006) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, DEVELOPMENTAL STAGE, DISRUPTION PHENOTYPE.
• regulation of neurogenesis Source: GO_CentralInferred from biological aspect of ancestorⁱ
  • "Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium."
    Gaudet P., Livstone M.S., Lewis S.E., Thomas P.D.
    Brief. Bioinformatics 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• suckling behavior Source: MGIInferred from mutant phenotypeⁱ
  • Ref.5

    "Megane/Heslike is required for normal GABAergic differentiation in the mouse superior colliculus."
    Guimera J., Weisenhorn D.V., Wurst W.
    Development 133:3847-3857(2006) [PubMed] [Europe PMC] [Abstract]

    Cited for: FUNCTION, DEVELOPMENTAL STAGE, DISRUPTION PHENOTYPE.

<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 provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechⁱ

<p>This subsection of the 'Pathology and Biotech' section describes the in vivo effects caused by ablation of the gene (or one or more transcripts) coding for the protein described in the entry. This includes gene knockout and knockdown, provided experiments have been performed in the context of a whole organism or a specific tissue, and not at the single-cell level.<p><a href='/help/disruption_phenotype' target='_top'>More...</a></p>Disruption phenotypeⁱ

<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

Amino acid modifications

Keywords - PTMⁱ

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

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 dimerization activity Source: InterPro

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

Domains and Repeats

<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

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>Sequence (1+)ⁱ

<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.

This entry has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

        10         20         30         40         50
MSDRLKERKR TPVSHKVIEK RRRDRINRCL NELGKTVPMA LAKQSSGKLE 
        60         70         80         90        100
KAEILEMTVQ YLRALHSADF PRGREKELLA EFANYFHYGY HECMKNLVHY 
       110        120        130        140        150
LTTVERMETK DTKYARILAF LQSKARLGAE PTFPPLSLPE PDFSYQLHAA 
       160        170        180        190        200
SPEFPGHSPG EATMFPQGAT PGSFPWPPGA ARSPALPYLS SATVPLPSPA 
       210        220        230        240
QQHSPFLAPM QGLDRHYLNL IGHGHPNGLN LHTPQHPPVL            

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

• 100% Identity
• 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. SIMILARITY comments
   Index of protein domains and families
2. MGD cross-references
   Mouse Genome Database (MGD) cross-references in UniProtKB/Swiss-Prot