Twist-related 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: MGI
• DNA-binding transcription factor activity Source: UniProtKB <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
  • 17893140
• E-box binding Source: UniProtKBInferred from direct assayⁱ
  • 16502419
• protein domain specific 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-go-evidence-codes#ipi">GO evidence code guide</a></p> Inferred from physical interactionⁱ
  • 15030764
• protein heterodimerization activity Source: UniProtKBInferred from direct assayⁱ
  • 16502419
• protein homodimerization activity Source: UniProtKBInferred from direct assayⁱ
  • 16502419
• RNA polymerase II transcription factor activity, sequence-specific DNA binding Source: MGI
• transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding Source: BHF-UCL <p>Traceable Author Statement</p> <p>Used for information from review articles where the original experiments are traceable through that article and also for information from text books or dictionaries.</p> <p>More information in the <a href="http://geneontology.org/page/guide-go-evidence-codes#tas">GO evidence code guide</a></p> Traceable author statementⁱ
  • 11001584
• transcription factor binding Source: BHF-UCLInferred from physical interactionⁱ
  • 19345188

GO - Biological processⁱ

• aortic valve morphogenesis 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
  • 20804746
• cardiac neural crest cell development involved in outflow tract morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • 18539270
• cardiac neural crest cell migration involved in outflow tract morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • 18539270
• cell differentiation Source: MGIInferred from mutant phenotypeⁱ
  • 12142027
• cell proliferation involved in heart valve development Source: BHF-UCLInferred from mutant phenotypeⁱ
  • 20804746
• cellular response to growth factor stimulus Source: Ensembl
• cellular response to hypoxia Source: BHF-UCLInferred from mutant phenotypeⁱ
  • 18297062
• cranial suture morphogenesis Source: UniProtKBInferred from mutant phenotypeⁱ
  • 16502419
• embryonic camera-type eye formation Source: MGI
• embryonic cranial skeleton morphogenesis Source: BHF-UCLInferred from mutant phenotypeⁱ
  • 8988167
• embryonic digit morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • 15030764
• embryonic forelimb morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • 12175489
• embryonic hindlimb morphogenesis Source: BHF-UCLInferred from mutant phenotypeⁱ
  • 8988167
• embryonic limb morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • 11350121
  • 12142027
  • 15030764
• embryonic skeletal system morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • 15030764
• endocardial cushion morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • 18539270
• eyelid development in camera-type eye Source: MGI
• hindlimb morphogenesis Source: MGIInferred from mutant phenotypeⁱ
  • 10700192
• in utero embryonic development Source: MGIInferred from mutant phenotypeⁱ
  • 15030764
• mitral valve morphogenesis Source: BHF-UCLInferred from mutant phenotypeⁱ
  • 20804746
• muscle organ development Source: UniProtKB-KW
• negative regulation of apoptotic process Source: MGIInferred from mutant phenotypeⁱ
  • 12175489
• negative regulation of cell differentiation Source: UniProtKBInferred from direct assayⁱ
  • 9520323
• negative regulation of cellular senescence Source: MGI
• negative regulation of DNA-binding transcription factor activity Source: BHF-UCLInferred from direct assayⁱ
  • 19345188
• negative regulation of DNA damage response, signal transduction by p53 class mediator Source: MGI
• negative regulation of double-strand break repair Source: MGI
• negative regulation of histone acetylation Source: BHF-UCLInferred from direct assayⁱ
  • 19345188
• negative regulation of histone phosphorylation Source: MGI
• negative regulation of molecular function Source: MGIInferred from direct assayⁱ
  • 15030764
• negative regulation of osteoblast differentiation Source: MGIInferred from direct assayⁱ
  • 15030764
• negative regulation of oxidative phosphorylation uncoupler activity Source: BHF-UCLInferred from direct assayⁱ
  • 19345188
• negative regulation of peroxisome proliferator activated receptor signaling pathway Source: BHF-UCLInferred from direct assayⁱ
  • 19345188
• negative regulation of phosphatidylinositol 3-kinase signaling Source: MGI
• negative regulation of skeletal muscle tissue development Source: MGIInferred from direct assayⁱ
  • 7664846
  • 7958419
• negative regulation of striated muscle tissue development Source: UniProtKBInferred from direct assayⁱ
  • 9520323
• negative regulation of transcription, DNA-templated Source: UniProtKBInferred from direct assayⁱ
  • 14645221
• negative regulation of transcription by RNA polymerase II Source: UniProtKBInferred from direct assayⁱ
  • 16502419
• negative regulation of tumor necrosis factor production 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-go-evidence-codes#igi">GO evidence code guide</a></p> Inferred from genetic interactionⁱ
  • 16831897
• neural tube closure Source: MGIInferred from mutant phenotypeⁱ
  • 7729687
• neuron migration Source: MGIInferred from mutant phenotypeⁱ
  • 15162501
• odontogenesis Source: Ensembl
• ossification Source: MGIInferred from mutant phenotypeⁱ
  • 15030764
• osteoblast differentiation Source: MGIInferred from mutant phenotypeⁱ
  • 15030764
• positive regulation of cell motility Source: BHF-UCLInferred from mutant phenotypeⁱ
  • 17332324
• positive regulation of DNA-templated transcription, initiation Source: MGI
• positive regulation of endocardial cushion to mesenchymal transition involved in heart valve formation Source: BHF-UCLInferred from direct assayⁱ
  • 20804746
• positive regulation of epithelial cell proliferation Source: MGI
• positive regulation of epithelial to mesenchymal transition Source: BHF-UCLInferred from mutant phenotypeⁱ
  • 17332324
  • 18297062
  • 20804746
• positive regulation of fatty acid beta-oxidation Source: MGI
• positive regulation of gene expression Source: MGI
• positive regulation of interleukin-6 secretion Source: MGI
• positive regulation of monocyte chemotactic protein-1 production Source: MGI
• positive regulation of transcription by RNA polymerase II Source: UniProtKBInferred from direct assayⁱ
  • 17893140
• positive regulation of transcription regulatory region DNA binding Source: MGI
• positive regulation of tumor necrosis factor production Source: MGI
• regulation of bone mineralization Source: MGI
• rhythmic process Source: UniProtKB-KW
• roof of mouth development Source: Ensembl

<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

Mutagenesis

<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

Miscellaneous 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 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_section">'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_section">'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_section%27">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="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsⁱ

GO - Molecular functionⁱ

• bHLH transcription factor binding Source: MGI
• protein domain specific binding Source: MGIInferred from physical interactionⁱ
  • 15030764
• protein heterodimerization activity Source: UniProtKBInferred from direct assayⁱ
  • 16502419
• protein homodimerization activity Source: UniProtKBInferred from direct assayⁱ
  • 16502419
• transcription factor binding Source: BHF-UCLInferred from physical interactionⁱ
  • 19345188

Protein-protein interaction 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_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<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_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">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
MMQDVSSSPV SPADDSLSNS EEEPDRQQPA SGKRGARKRR SSRRSAGGSA 
        60         70         80         90        100
GPGGATGGGI GGGDEPGSPA QGKRGKKSAG GGGGGGAGGG GGGGGGSSSG 
       110        120        130        140        150
GGSPQSYEEL QTQRVMANVR ERQRTQSLNE AFAALRKIIP TLPSDKLSKI 
       160        170        180        190        200
QTLKLAARYI DFLYQVLQSD ELDSKMASCS YVAHERLSYA FSVWRMEGAW 

SMSASH                                                 

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