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FLASH GENE
Symbol FOXD1 contributors: mct - updated : 07-02-2012
HGNC name forkhead box D1
HGNC id 3802
Location 5q13.2      Physical location : 72.742.086 - 72.744.352
Genatlas name winged helix transcription factor,kidney expression
Synonym name
  • Forkhead, drosophila, homolog-like 8
  • forkhead (Drosophila)-like 8
  • forkhead-related activator 4
    • Synonym symbol(s) FREAC4, FKHL8, HFH-BF-2
    DNA
    TYPE like-sequence
    STRUCTURE 2.27 kb     1 Exon(s)
    10 Kb 5' upstream gene genomic sequence study
    MAPPING cloned Y linked   status provisional
    RNA
    TRANSCRIPTS type messenger
    identificationnb exonstypebpproduct
    ProteinkDaAAspecific expressionYearPubmed
    1 - 2272 - 465 - 2004 15509772
    EXPRESSION
    Type restricted
       expressed in (based on citations)
    organ(s)
    SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
    Hearing/Equilibriumear    
    Skin/Tegumentskin    
    Urinarykidney    
    cell lineage
    cell lines
    fluid/secretion
    at STAGE
    physiological period fetal
    Text developing kidney
    PROTEIN
    PHYSICAL PROPERTIES
    STRUCTURE
    motifs/domains
  • a forkhead (FH,winged helix) domain with two loops-wings on the C-terminal side of helix-turn-helix homeo domain
    • HOMOLOGY
    interspecies homolog to Drosophila homeo forkhead DNA binding domain
    Homologene
    FAMILY HNF-3 forkhead family of transcriptional activator
    CATEGORY transcription factor
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,nucleus,chromatin/chromosome
    basic FUNCTION
  • embryonic transcriptional regulator
  • involved in kidney development
  • plays a dual role in the establishment of the binocular visual pathways: first, in specification of the ventrotemporal retina, acting upstream of proteins directing the ipsilateral pathway, and second, in the patterning of the developing ventral diencephalon where the optic chiasm forms
  • acts as a transcription repressor in controlling its downstream targets in the retina
  • functions as a conserved determinant of temporal identity, and is required for the specification of the temporal retina
    • CELLULAR PROCESS nucleotide, transcription
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
  • FOXG1 and FOXD1 are potentially located at the top of the gene cascade for regional specification along the nasotemporal (anteroposterior) axis in the retina
    • a component
    INTERACTION
    DNA binding
    RNA
    small molecule
    protein
  • PIGF is a direct and physiologically relevant transcriptional target of FOXD1
  • possible interaction between FOXD1 and TFAP2A
  • EPHA6 is a FOXD1 downstream effector that sends temporal axons to the rostral colliculus
  • key role of ZEB2 in maintaining the cell fate of FOXD1+ stromal progenitors during kidney development, whereas loss of ZEB2 leads to differentiation of FOXD1+ stromal progenitors into myofibroblasts and kidney fibrosis
    • cell & other
    REGULATION
    Other regulated by ETS1
    ASSOCIATED DISORDERS
    corresponding disease(s)
    Other morbid association(s)
    TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
    constitutional   deletion    
    results in striking renal abnormalities, including the loss of the discrete zones of induction and differentiation that are crucial to the future radial patterning and pelvic fused kidneys
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS