Heart- and neural crest derivatives-expressed protein 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

<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

• bHLH transcription factor binding Source: BHF-UCL <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-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactionⁱ
  • "Human Hand1 basic helix-loop-helix (bHLH) protein: extra-embryonic expression pattern, interaction partners and identification of its transcriptional repressor domains."
    Knofler M., Meinhardt G., Bauer S., Loregger T., Vasicek R., Bloor D.J., Kimber S.J., Husslein P.
    Biochem J 361:641-651(2002) [PubMed] [Europe PMC] [Abstract]
• DNA-binding transcription activator activity, RNA polymerase II-specific Source: BHF-UCL
• DNA-binding transcription factor activity, RNA polymerase II-specific Source: BHF-UCL <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-go-evidence-codes#ida">GO evidence code guide</a></p> Inferred from direct assayⁱ
  • "MEF2-dependent recruitment of the HAND1 transcription factor results in synergistic activation of target promoters."
    Morin S., Pozzulo G., Robitaille L., Cross J., Nemer M.
    J Biol Chem 280:32272-32278(2005) [PubMed] [Europe PMC] [Abstract]
• DNA-binding transcription repressor activity, RNA polymerase II-specific Source: NTNU_SBInferred from direct assayⁱ
  • "Human Hand1 basic helix-loop-helix (bHLH) protein: extra-embryonic expression pattern, interaction partners and identification of its transcriptional repressor domains."
    Knofler M., Meinhardt G., Bauer S., Loregger T., Vasicek R., Bloor D.J., Kimber S.J., Husslein P.
    Biochem J 361:641-651(2002) [PubMed] [Europe PMC] [Abstract]
• enzyme binding Source: Ensembl
• identical protein binding Source: BHF-UCL
• protein homodimerization activity Source: Ensembl
• RNA polymerase II cis-regulatory region sequence-specific DNA binding Source: NTNU_SBInferred from direct assayⁱ
  • "Human Hand1 basic helix-loop-helix (bHLH) protein: extra-embryonic expression pattern, interaction partners and identification of its transcriptional repressor domains."
    Knofler M., Meinhardt G., Bauer S., Loregger T., Vasicek R., Bloor D.J., Kimber S.J., Husslein P.
    Biochem J 361:641-651(2002) [PubMed] [Europe PMC] [Abstract]
• RNA polymerase II-specific DNA-binding transcription factor binding Source: BHF-UCLInferred from physical interactionⁱ
  • "MEF2-dependent recruitment of the HAND1 transcription factor results in synergistic activation of target promoters."
    Morin S., Pozzulo G., Robitaille L., Cross J., Nemer M.
    J Biol Chem 280:32272-32278(2005) [PubMed] [Europe PMC] [Abstract]
• RNA polymerase II transcription 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-go-evidence-codes#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 Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• transcription coregulator binding Source: BHF-UCL

GO - Biological processⁱ

• angiogenesis Source: BHF-UCL
• blastocyst development Source: BHF-UCL <p>Inferred from Expression Pattern</p> <p>Covers cases where the annotation is inferred from the timing or location of expression of a gene.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#iep">GO evidence code guide</a></p> Inferred from expression patternⁱ
  • "Human Hand1 basic helix-loop-helix (bHLH) protein: extra-embryonic expression pattern, interaction partners and identification of its transcriptional repressor domains."
    Knofler M., Meinhardt G., Bauer S., Loregger T., Vasicek R., Bloor D.J., Kimber S.J., Husslein P.
    Biochem J 361:641-651(2002) [PubMed] [Europe PMC] [Abstract]
• cardiac left ventricle formation Source: BHF-UCL <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-go-evidence-codes#imp">GO evidence code guide</a></p> Inferred from mutant phenotypeⁱ
  • "A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts."
    Reamon-Buettner S.M., Ciribilli Y., Inga A., Borlak J.
    Hum Mol Genet 17:1397-1405(2008) [PubMed] [Europe PMC] [Abstract]
• cardiac right ventricle formation Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts."
    Reamon-Buettner S.M., Ciribilli Y., Inga A., Borlak J.
    Hum Mol Genet 17:1397-1405(2008) [PubMed] [Europe PMC] [Abstract]
• cardiac septum morphogenesis Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "A functional genetic study identifies HAND1 mutations in septation defects of the human heart."
    Reamon-Buettner S.M., Ciribilli Y., Traverso I., Kuhls B., Inga A., Borlak J.
    Hum Mol Genet 18:3567-3578(2009) [PubMed] [Europe PMC] [Abstract]
• cartilage morphogenesis Source: Ensembl
• developmental process 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 Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• embryonic heart tube development Source: BHF-UCL
• embryonic heart tube formation Source: Ensembl
• heart development Source: BHF-UCL
• heart looping Source: BHF-UCL
• mesenchyme development Source: Ensembl
• mesoderm formation Source: Ensembl
• negative regulation of DNA-binding transcription factor activity Source: BHF-UCLInferred from direct assayⁱ
  • "Human Hand1 basic helix-loop-helix (bHLH) protein: extra-embryonic expression pattern, interaction partners and identification of its transcriptional repressor domains."
    Knofler M., Meinhardt G., Bauer S., Loregger T., Vasicek R., Bloor D.J., Kimber S.J., Husslein P.
    Biochem J 361:641-651(2002) [PubMed] [Europe PMC] [Abstract]
• negative regulation of RNA polymerase II regulatory region sequence-specific DNA binding Source: BHF-UCLInferred from direct assayⁱ
  • "Human Hand1 basic helix-loop-helix (bHLH) protein: extra-embryonic expression pattern, interaction partners and identification of its transcriptional repressor domains."
    Knofler M., Meinhardt G., Bauer S., Loregger T., Vasicek R., Bloor D.J., Kimber S.J., Husslein P.
    Biochem J 361:641-651(2002) [PubMed] [Europe PMC] [Abstract]
• negative regulation of transcription, DNA-templated Source: BHF-UCLInferred from direct assayⁱ
  • "Human Hand1 basic helix-loop-helix (bHLH) protein: extra-embryonic expression pattern, interaction partners and identification of its transcriptional repressor domains."
    Knofler M., Meinhardt G., Bauer S., Loregger T., Vasicek R., Bloor D.J., Kimber S.J., Husslein P.
    Biochem J 361:641-651(2002) [PubMed] [Europe PMC] [Abstract]
• negative regulation of transcription by RNA polymerase II Source: BHF-UCLInferred from direct assayⁱ
  • "Human Hand1 basic helix-loop-helix (bHLH) protein: extra-embryonic expression pattern, interaction partners and identification of its transcriptional repressor domains."
    Knofler M., Meinhardt G., Bauer S., Loregger T., Vasicek R., Bloor D.J., Kimber S.J., Husslein P.
    Biochem J 361:641-651(2002) [PubMed] [Europe PMC] [Abstract]
• odontogenesis of dentin-containing tooth Source: Ensembl
• positive regulation of transcription by RNA polymerase II Source: BHF-UCLInferred from direct assayⁱ
  • "Human Hand1 basic helix-loop-helix (bHLH) protein: extra-embryonic expression pattern, interaction partners and identification of its transcriptional repressor domains."
    Knofler M., Meinhardt G., Bauer S., Loregger T., Vasicek R., Bloor D.J., Kimber S.J., Husslein P.
    Biochem J 361:641-651(2002) [PubMed] [Europe PMC] [Abstract]
  • "MEF2-dependent recruitment of the HAND1 transcription factor results in synergistic activation of target promoters."
    Morin S., Pozzulo G., Robitaille L., Cross J., Nemer M.
    J Biol Chem 280:32272-32278(2005) [PubMed] [Europe PMC] [Abstract]
• regulation of transcription by RNA polymerase II 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 Bioinform 12:449-462(2011) [PubMed] [Europe PMC] [Abstract]
• trophectodermal cell differentiation Source: BHF-UCLInferred from expression patternⁱ
  • "Human Hand1 basic helix-loop-helix (bHLH) protein: extra-embryonic expression pattern, interaction partners and identification of its transcriptional repressor domains."
    Knofler M., Meinhardt G., Bauer S., Loregger T., Vasicek R., Bloor D.J., Kimber S.J., Husslein P.
    Biochem J 361:641-651(2002) [PubMed] [Europe PMC] [Abstract]
• trophoblast giant cell differentiation Source: UniProtKB
• ventricular cardiac muscle tissue morphogenesis Source: BHF-UCLInferred from mutant phenotypeⁱ
  • "A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts."
    Reamon-Buettner S.M., Ciribilli Y., Inga A., Borlak J.
    Hum Mol Genet 17:1397-1405(2008) [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

Enzyme and pathway databases

<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

• UniProt annotation
• GO - Cellular component

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

Organism-specific databases

Miscellaneous databases

Genetic variation databases

<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

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm%5Fprocessing%5Fsection">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationⁱ

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

Gene expression databases

Organism-specific 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

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction%5Fsection">Interaction</a>' section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="https://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated at every <a href="http://www.uniprot.org/help/synchronization">UniProt release</a>.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsⁱ

GO - Molecular functionⁱ

• bHLH transcription factor binding Source: BHF-UCLInferred from physical interactionⁱ
  • "Human Hand1 basic helix-loop-helix (bHLH) protein: extra-embryonic expression pattern, interaction partners and identification of its transcriptional repressor domains."
    Knofler M., Meinhardt G., Bauer S., Loregger T., Vasicek R., Bloor D.J., Kimber S.J., Husslein P.
    Biochem J 361:641-651(2002) [PubMed] [Europe PMC] [Abstract]
• enzyme binding Source: Ensembl
• identical protein binding Source: BHF-UCL
• protein homodimerization activity Source: Ensembl
• RNA polymerase II-specific DNA-binding transcription factor binding Source: BHF-UCLInferred from physical interactionⁱ
  • "MEF2-dependent recruitment of the HAND1 transcription factor results in synergistic activation of target promoters."
    Morin S., Pozzulo G., Robitaille L., Cross J., Nemer M.
    J Biol Chem 280:32272-32278(2005) [PubMed] [Europe PMC] [Abstract]
• transcription coregulator binding Source: BHF-UCL

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

Region

Compositional bias

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
MNLVGSYAHH HHHHHPHPAH PMLHEPFLFG PASRCHQERP YFQSWLLSPA 
        60         70         80         90        100
DAAPDFPAGG PPPAAAAAAT AYGPDARPGQ SPGRLEALGG RLGRRKGSGP 
       110        120        130        140        150
KKERRRTESI NSAFAELREC IPNVPADTKL SKIKTLRLAT SYIAYLMDVL 
       160        170        180        190        200
AKDAQSGDPE AFKAELKKAD GGRESKRKRE LQQHEGFPPA LGPVEKRIKG 
       210 
RTGWPQQVWA LELNQ                                       

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

Genetic variation databases

Proteomic databases

Protocols and materials databases

Genome annotation databases

Organism-specific databases

Phylogenomic databases

Enzyme and pathway 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. Human chromosome 5
   Human chromosome 5: entries, gene names and cross-references to MIM
2. MIM cross-references
   Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot