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FLASH GENE
Symbol GRHL1 contributors: mct - updated : 21-09-2011
HGNC name grainyhead-like 1 (Drosophila)
HGNC id 17923
Location 2p25.1      Physical location : 10.091.791 - 10.142.411
Synonym name
  • transcription factor CP2-like 2
  • leader-binding protein 32
  • mammalian grainyhead
    • Synonym symbol(s) MGR, LBP32, TFCP2L2
    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