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FLASH GENE
Symbol HAND1 contributors: mct/npt/pgu - updated : 03-02-2010
HGNC name heart and neural crest derivatives expressed 1
HGNC id 4807
Location 5q33.2      Physical location : 153.854.532 - 153.857.824
Synonym name
  • basic helix-loop-helix transcription factor HAND1
  • extraembryonic tissues, heart, autonomic nervous system and
    • neural crest derivatives-expressed protein 1
    Synonym symbol(s) EHAND, THING1, HAN1, HXT, bHLHa27
    DNA
    TYPE functioning gene
    STRUCTURE 3.29 kb     2 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked N status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    2 - 1749 23 215 - 2009 19586923
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Cardiovascularheart     Homo sapiens
    tissue
    SystemTissueTissue level 1Tissue level 2LevelPubmedSpeciesStageRna symbol
    Muscularstriatumcardiac   Homo sapiens
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period embryo
    Text heart and neural crest derivatives, cytotrophoblastic cells, developing heart, left ventricles, amniotic cells
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • several potentially phosphorylation sites
  • a bHLH domain that is a DNA binding and dimerization motif with a short stretch of basic amino acids
  • an amphipathic alpha helix, a loop and an additional alpha helix
    • mono polymer dimer
    HOMOLOGY
    interspecies homolog to murine Ehand gene
    Homologene
    FAMILY
  • basic helix- loop- helix (BHLH) family of transcription factor
    • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,nucleolus
    text interacting with a protein that contain an I-mfa domain that anchors HAND1 to the nucleolus and negatively regulates its activity
    basic FUNCTION
  • involved in cardiac looping, ventricular maturation and conotruncal development
  • required for trophoblast giant cell differentiation and involved in the differentiation of the amniotic membrane and the pre-implanting trophoblast
  • maybe involving in breaking of symetry (conversion)
  • may control the dorso-ventral patterning in concert with additional genes
  • playing critical roles in cell differentiation and organogenesis including placental, cardiovascular, and craniofacial development
  • acting as cell-specific developmental co-activators of the MEF2 family of transcription factors
  • molecular switch that determines whether a trophoblast stem cell continues to proliferate or commits to differentiation, depending on the localization of HAND1 (nucleolus -> proliferation, nucleus -> activation and differenciation)
  • playing an essential role in both placentation and cardiac morphogenesis
  • have a crucial function in sustaining the survival of neonatal sympathetic neurons with NGF by a feed-forward loop that maintains the expression of NTRK1
  • its down-regulation may have a role in the process of thyroid carcinogenesis
  • may also be affected in septation defects of the heart, and thus has a broader role in heart development and congenital heart disease )
  • cardiac HAND1 expression is largely limited to cells of the primary heart field, overlapping little with HAND2 expression
    • CELLULAR PROCESS cell life, differentiation
    cell life, proliferation/growth
    nucleotide, transcription
    PHYSIOLOGICAL PROCESS development
    text left/right (L/R )asymetry
    PATHWAY
    metabolism
    signaling
    a component
  • heterodimerizes with class A (widely expressed) E-factor, TCF3 or with the most closely related HAND2
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with a protein that contain an I-mfa domain that anchors HAND1 to the nucleolus
  • HMGA1 binds directly to HAND1 promoter andinhibit Hand1 promoter activity
  • can functionally interact with myocyte enhancer factor 2C (MEF2C) and stimulate transactivation in a MEF-box dependent manner
  • TMSB4X is a direct target of HAND1 (TMSB4X is an effector of HAND1-mediated vascular development)
  • FBXO25 acts as an ubiquitin E3 ligase to target cardiac transcription factors including NKX2-5, ISL1, and HAND1, indicating that cardiac protein homeostasis through FBXO25 has a pivotal impact on cardiac development
    • cell & other
    REGULATION
    inhibited by the protein that anchors it to the nucleolus
    Other phosphorylated by Sak and forming a dimer
    up-regulated in HMGA1 minus embryonic stem cells
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional     --low  
    in ischemic and dilated cardiomyopathy
    constitutional       loss of function
    in the hypoplastic left heart syndrome (HLHS)
    constitutional     --low  
    repressed by hypermethylation of the promoter in anaplastic carcinomas
    Susceptibility to hypoplasia of the heart, but also other cardiac abnormalities, notably septation defects
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS