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FLASH GENE
Symbol DDHD1 contributors: mct/shn - updated : 15/01/2013
HGNC name DDHD domain containing 1
HGNC id 19714
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a lipase consensus domain
  • a putative coiled-coil-forming region
  • a DDHD domain
    • HOMOLOGY
    interspecies ortholog to DDHD1, Pan troglodytes
    ortholog to Ddhd1, Mus musculus
    ortholog to Ddhd1, Rattus norvegicus
    Homologene
    FAMILY iPLA1 family
    CATEGORY enzyme
    SUBCELLULAR LOCALIZATION     intracellular
    intracellular,cytoplasm,organelle,mitochondria
    intracellular,cytoplasm,cytosolic
    intracellular,nucleus
    text displayed a diffuse distribution pattern almost exclusively in the cytosol and observed partially in microsomes and mitochondria
    basic FUNCTION
  • may control phosphatidyl inositol concentration in transport vesicle
  • hydrolizing phosphatidic acid
  • may function as a calcium transporter
  • may be participating in spermiogenesis
  • implicated in the formation of 2-arachidonoyl-lysophosphatidylinositol and indicate that the process is modulated by phosphatidic acid released by phospholipase D (
  • contributes to efficient membrane trafficking from the Golgi apparatus to the plasma membrane
  • might be involved in the maintenance of organelle membranes and intracellular trafficking
    • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS cellular trafficking transport
    PATHWAY
    metabolism lipid/lipoprotein
    signaling
    a component DDHD1-SLC7A7-GPR55 axis may be involved in functions in the brain (
    INTERACTION
    DNA
    RNA
    small molecule metal binding,
    Ca2+ binding
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) SPG28
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS