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FLASH GENE
Symbol GRHL1 contributors: mct - updated : 21-09-2011
HGNC name grainyhead-like 1 (Drosophila)
HGNC id 17923
DNA
TYPE functioning gene
STRUCTURE 50.62 kb     16 Exon(s)
MAPPING cloned Y linked N status provisional
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
16 - 3610 70 618 highly expressed in brain, pancreas, tonsil, placenta and kidney 2003 12549979
isoform 1
- - 2961 49 429 highly expressed in brain and liver 2003 12549979
  • multiple differences in the 5'UTR and coding region
  • isoform 2 is shorter and has a distinct N terminus compared to variant 1
  • EXPRESSION
    Type
       expressed in (based on citations)
    organ(s)
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text liver and brain
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
    mono polymer homomer , heteromer , dimer
    HOMOLOGY
    interspecies homolog to murine Grhl1 (94.5pc)
    Homologene
    FAMILY
  • grh/CP2 family
  • Grainyhead subfamily
  • CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,Golgi
    intracellular,nucleus,nucleoplasm
    basic FUNCTION
  • isoform 1 may function as an activator and isoform 2 as a repressor in tissues where both forms are expressed
  • may be involved in epidermal differentiation
  • may function as a transcription factor during development
  • may play important roles in mammalian development
  • an important regulator of the DSG1 genes in the context of hair anchorage and epidermal differentiation
  • transcriptional factor that regulate the expression of the P450 side-chain cleavage enzyme (CYP11A1) in the human placenta (Henderson 2009)
  • cooperative roles of the GRHL genes in epidermal development
  • CELLULAR PROCESS nucleotide, transcription, regulation
    PHYSIOLOGICAL PROCESS development
    PATHWAY
    metabolism
    signaling
    a component
  • homodimer but also forming heterodimers with GRHL2 and GRHL3
  • INTERACTION
    DNA binding the EN1 promoter
    RNA
    small molecule
    protein
  • interacting with sister of mammalian grainyhead (SOM)
  • cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
  • Grhl1-null mice show an initial delay in coat growth, and older mice exhibit hair loss as a result of poor anchoring of the hair shaft in the follicle
  • ANIMAL & CELL MODELS