ZFIN ID: ZDB-GENE-000210-6
Gene Name: twist family bHLH transcription factor 1a
Gene Symbol: twist1a    Nomenclature History

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Previous Names: twist-1, twist1, twist1b (2), wu:fd04c01, zgc:101115

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(Including Attributions)
Gene Type: protein_coding_gene
Location: Chr: 19 Mapping Details/Browsers
Description: Predicted to have protein dimerization activity. Involved in pharyngeal system development and sprouting angiogenesis. Human ortholog(s) of this gene implicated in Saethre-Chotzen syndrome; Sweeney-Cox syndrome; acrocephalosyndactylia; and craniosynostosis. Is expressed in several structures, including mesenchyme; mesoderm; nervous system; neural crest; and pharyngeal arch. Orthologous to human TWIST1 (twist family bHLH transcription factor 1).
Genome Resources: Alliance (1),  Gene:30175 (1),  Ensembl(GRCz11):ENSDARG00000030402 (2)
MUTATIONS AND SEQUENCE TARGETING REAGENTS
Allele Type Localization Consequence Mutagen Suppliers
el571 Small Deletion Unknown Unknown TALEN
sa10536 Point Mutation Unknown Splice Site ENU
  • European Zebrafish Resource Center (EZRC) (order this)
  • Zebrafish International Resource Center (ZIRC) (order this)
  • sa25079 Point Mutation Unknown Premature Stop ENU
    Sequence Targeting Reagents
    Targeting Reagent Created Alleles Publications
    MO1-twist1a N/A 2
    TALEN1-twist1a 1
    PHENOTYPE No data available
    DISEASE ASSOCIATED WITH twist1a HUMAN ORTHOLOG
    Disease Ontology Term Multi-Species Data OMIM Term OMIM Phenotype ID
    craniosynostosis Alliance Craniosynostosis 1 123100
    Saethre-Chotzen syndrome Alliance Robinow-Sorauf syndrome 180750
    Saethre-Chotzen syndrome with or without eyelid anomalies 101400
    Sweeney-Cox syndrome Alliance Sweeney-Cox syndrome 617746
    DISEASE ASSOCIATED WITH twist1a VIA EXPERIMENTAL MODELS No data available
    GENE ONTOLOGY
    Ontology GO Term
    Biological Process pharyngeal system development (more)
    Cellular Component nucleus (more)
    Molecular Function protein dimerization activity (more)
    GO Terms (all 7)
    PROTEIN FAMILIES, DOMAINS AND SITES No links to external sites available
    TRANSCRIPTS
    Type Name Length (nt) Analysis
    mRNA twist1a-201 (1)    Ensembl 1148
    Browsers: UCSCNCBIEnsemblZFIN
    INTERACTIONS AND PATHWAYS
    ANTIBODIES No data available
    PLASMIDS No data available
    CONSTRUCTS WITH SEQUENCES FROM twist1a
    Construct Regulatory Regions Coding Sequences Species Tg Lines Publications
    Tg(twist1a:Eos) twist1a Eos Danio rerio 1 1
    MARKER RELATIONSHIPS
    twist1a Contained in: [Fosmid] CH1073-189B15 (1)
    twist1a Encodes: [EST] fd04c01 (1) (order this)
    [cDNA] MGC:101115 (1)
    SEQUENCE INFORMATION
    Type Accession # Length (nt/aa) Analysis
    RNA RefSeq:NM_130984 (1) 1151 nt
    Genomic GenBank:CU627989 (1) 36015 nt
    Select Tool
    Polypeptide UniProtKB:Q9PTE3 (1) 171 aa
    Sequence Information (all 17)
    ORTHOLOGY for twist1a ( Chr: 19 )
    CITATIONS (54)