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FLASH GENE
Symbol HEYL contributors: npt/mct - updated : 11-01-2012
HGNC name hairy/enhancer-of-split related with YRPW motif-like
HGNC id 4882
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • basic helix-loop-helix (HLH) domain
  • an adjacent orange domain
  • C-terminal region, which appears to be instrumental in AR repression, contains two short AA motifs showing conservation between HEY family members
    • HOMOLOGY
    interspecies homolog to murine Heyl
    Homologene
    FAMILY
  • Hairy/Enhancer-of-split-related with YRPW-like motif (HEY) family of proteins
    • CATEGORY regulatory , transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm
    intracellular,nucleus
    basic FUNCTION
  • invoved in controlling Notch induced endocardial epithelial to mesenchymal transition, a process critical for valve and septum formation
  • promotes neuronal differentiation of neural progenitor cells both in culture and in the embryonic brain
  • promotes neuronal differentiation of neural progenitor cells by activating proneural genes and by inhibiting the actions of other HES and HEY family members
  • HESR family (HEY1, HEY2, HEYL)is involved in dopamine transporter (SLC6A3) expression via the VNTR domain
  • represses endogenous AR-regulated genes and reduces androgen-dependent prostate cancer cell growth
  • is excluded from the nuclei of cancer cells but not benign cells, indicating that nuclear exclusion of HEYL occurs in the early stages of prostate cancer formation or progression
  • HEY1 and HEYL (which are known Notch target genes) are expressed simultaneously in skeletal muscle only in satellite cells
    • CELLULAR PROCESS nucleotide, transcription
    cell organization/biogenesis
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
  • HES/HERP heterodimer for NOTCH signaling
    • INTERACTION
    DNA
    RNA
    small molecule
    protein
  • interacting with HEY1
  • target of NOTCH
  • binds to and activates the promoter of the proneural gene neurogenin2, which is inhibited by other HES and HEY family members, and is a weak inhibitor of the HES1 promoter
  • more potent repressor of AR activity
  • AR corepressor that down-regulates AR activity by functionally competing with SRC1 (and possibly other coactivators), resulting in attenuated SRC1 loading at the regulatory regions of AR target genes
    • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional       loss of function
    inactivation of HEY1 and HEYL, two primary target genes of Notch, causes severe heart malformations, including membranous ventricular septal defects and dysplastic atrioventricular and pulmonary valves
    tumoral     --over  
    represses AR-regulated genes and hormone-dependent prostate cancer cell line growth
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS